craniofacial anomaly

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TITLE="jaundice"><U><B>jaundice</B></U></A></div> <div> <A HREF="id42.htm" TARGET="_top" TITLE="INFANT OF DIABETIC MOTHER (IDM) "><U><B>INFANT OF DIABETIC MOTHER (IDM) </B></U></A></div> <div> <A HREF="id43.htm" TARGET="_top" TITLE="FETAL GROWTH "><U><B>FETAL GROWTH </B></U></A></div> <div> <A HREF="id44.htm" TARGET="_top" TITLE="Moebius Syndrome"><U><B>Moebius Syndrome</B></U></A></div> <div> <A HREF="id45.htm" TARGET="_top" TITLE="SHORT STATURE"><U><B>SHORT STATURE</B></U></A></div> <div> <A HREF="id46.htm" TARGET="_top" TITLE="MICROCEPHALIA"><U><B>MICROCEPHALIA</B></U></A></div> <div> <A HREF="id47.htm" TARGET="_top" TITLE="PIERRE ROBIN SYNDROME "><U><B>PIERRE ROBIN SYNDROME </B></U></A></div> <div> <A HREF="id19.htm" TARGET="_top" TITLE="Prenatal Diagnosis"><U><B>Prenatal Diagnosis</B></U></A></div> <div> <A HREF="id28.htm" TARGET="_top" TITLE="Febrile Seizures "><U><B>Febrile Seizures </B></U></A></div> <div> <A HREF="id20.htm" TARGET="_top" TITLE="dvlp bis"><U><B>dvlp bis</B></U></A></div> <div> <A HREF="id21.htm" TARGET="_top" TITLE="DEVELOPMENTAL NEUROLOGIC DISEASES"><U><B>DEVELOPMENTAL NEUROLOGIC DISEASES</B></U></A></div> <div> <A HREF="id22.htm" TARGET="_top" TITLE="GENETIC DISEASES "><U><B>GENETIC DISEASES </B></U></A></div> <div> <A HREF="id26.htm" TARGET="_top" TITLE="angelman syndrome"><U><B>angelman syndrome</B></U></A></div> <div> <A HREF="id23.htm" TARGET="_top" TITLE="TAYSACHS DISEASE"><U><B>TAY-SACHS DISEASE</B></U></A></div> <div> <A HREF="id24.htm" TARGET="_top" TITLE="krabbes disease"><U><B>krabbe's disease</B></U></A></div> <div> <A HREF="id25.htm" TARGET="_top" TITLE="Refsums Disease"><U><B>Refsum's Disease</B></U></A></div> <div> <A HREF="id29.htm" TARGET="_top" TITLE="meningitis"><U><B>meningitis</B></U></A></div> <div> <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U><B>Contact Me</B></U></A></div> </td> <td valign="top" height=355 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> craniofacial anomaly</div> <bR> <div>  <A NAME="top"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A><B><U>Craniofacial Anomalies<IMG SRC="10cd8970.gif" border=0 width="216" height="151" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis is a congenital birth defect that occurs when the skull sutures close prematurely in early infancy.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The result is an abnormal head shape. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normally, the bones in the skull are held together with sutures (fibrous joints) which allow the head to expand as it grows. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">When those sutures close prematurely, the resistance to growth causes the skull to grow improperly to accommodate the growing brain. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis may also affect growth of the facial bones, ears, and forehead.</div> <bR> <bR> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">craniosynostosis (premature sutural fusion)</U></B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">males (75%)</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">sagittal (56%) </div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">scaphocephaly/dolichocephally</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">bilateral coronal or lambdoidal (11%) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">brachy-, turri- or acrocephaly </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">associated with: </div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Apert syndrome</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Crouzon syndrome</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pfeiffer syndrome</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">unilateral coronal or lamdoidal (7%) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">plagiocephaly </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">metopic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">trigonocephaly </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">closure of all sutures except squamosal </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">oxycephally </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">intrauterine closure of all sutures except squamosal </div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Kleeblatschaedel</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Included under this heading are a rather large number of conditions that can affect the shape of a child's head and face. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">An extensive review can not be presented here but rather some basic features. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">When a baby is born the skull bone is really a collection of many smaller bones which abut one another at sites known as <B>sutures</B>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The most noticeable is the anterior fontanel or "soft spot" where four bones meet. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">As the brain grows, the sutures allow for rapid expansion in a symmetrical fashion</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. It is the brain that essentially determines the head size and shape under normal circumstances.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> If for any reason one or more sutures closes to early the brain is forced to grow in a different direction where the bones are not resisting growth.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> This is like blowing up a balloon but pinching it as it inflates. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The air goes in but the balloon inflates in the direction away from where you are pinching it. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This condition is known as <B>craniosynostosis</B> or <B>craniostenosis</B>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some of these conditions are inherited and associated with other developmental problems. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The majority however are sporadic and not associated with developmental problems. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Certain craniosynostses can be detected at birth while others are not obvious for several months.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Since it is in the first year of life that the most rapid head growth occurs, it is usually the only significant time to diagnose and treat these conditions. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some of these conditions are so obvious that a physician can make the diagnosis by just examining the baby.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In other cases a radiographic study may be needed.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Probably the most popular study is a 3 dimensional CT scan, though clearly certain conditions may be proven with a simple set of skull x-rays. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Unfortunately sometimes no single radiological test is adequate to make a clear diagnosis.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In these cases it may be best to wait a few weeks to months to see if the condition is going to progress. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis occurs in one out of 2,000 live births and affects males twice as often as females. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis is most often sporadic (occurs by chance). In some families, craniosynostosis is inherited in one of two ways:</div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">autosomal recessive</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are obligate carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.</div> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">autosomal dominant</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">What has probably become the hottest topic from a practical standpoint is the infant who develops a flatness on the back side of the head.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Several years ago researchers determined that SIDS (sudden infant death syndrome) may be linked to babies sleeping face down. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The recommendation has been for babies to thus sleep on their sides or backs. With this has come a great increase in the number of infants with flat heads.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Often there is an associated bulging of the forehead and a displacement of the ear on the same side of the flattening.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The great majority of these children do not have a synostosis but rather a condition known as <B>positional molding</B> or "lazy lambdoid" .</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The lambdoid is the involved suture.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The majority of these children should improve without surgery utilizing either repositioning techniques or a specially molded helmet. Rarely surgery may be needed for advanced cases. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The timing and type of surgery is very much dependent on the type of synostosis and the preferences of the neurosurgeon.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The majority of operations are performed in the first year of life, and some even in the first few months of life. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Parents often ask what the necessity of the operation is if the child is doing well.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The answer is somewhat confusing. Certain times if you do not treat the synostosis then pressure can build up in the head and cause injury to the brain. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">As best as can be known this is probably true in the minority of cases. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">What is true is that most of these conditions will cause a marked deformity to the skull and face that the child will have to live with for his entire life.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> These two reasons are usually felt sufficient to justify the risks of surgery. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most operations require rather extensive removal, recontouring and finally replacement of the skull. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Often this is associated with blood loss sufficient to require a transfusion.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Fortunately these operations are elective and blood donation can be performed.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Many different techniques are available to the surgeon to replace the bone securely at the end of the operation.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In addition to surgical sutures and wires, very fine plates and screws can be used. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">These materials are essentially too small to be felt under the skin. In experienced hands, the results of surgery are usually excellent and only rarely would further surgery be required.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"><IMG SRC="09fd2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Introduction, part 1</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Viewed from above, you can see five major plates of bone: the paired frontal and parietal bones and the single occipital bone. The corner where the two frontal and the two parietal bone plates meet is the <B>anterior fontanelle</B>, known as the "<I>soft spot</I>". Not shown is a somewhat smaller <B>posterior fontanelle</B> at the junction of the two parietal bone plates and the occipital bone. These fontanelles close during the first year or two of life. The timing of closure can be quite variable, but usually the posterior fontanelle closes first- usually in the first several months. The anterior fontanelle closes second- usually in the latter half of the first year of life</div> <div> <IMG SRC="0a0d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0a1d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Also known as <B>trigonencephaly</B>, the metopic suture closes early and restricts growth of the forehead in the temporal region. This leads to a "beaking" of the forehead when viewed from above. </div> <div> <IMG SRC="0a2d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0a3d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Also known as <B>plagiocephaly</B>, the coronal suture closes early and restricts growth of the forehead on the "synostosed" side. This leads to a flattening of the forehead and a "compensatory" bulging of the forehead on the opposite side.</div> <div> <IMG SRC="0a4d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0a5d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Also known as <B>brachicephaly</B>, both left and right sided coronal sutures close early. This restricts growth of the forehead in a forward direction. This leads to a flat broad forehead with an increased height much like the appearence of a fireman's hat.</div> <div> <IMG SRC="0a6d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0a7d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Also known as <B>scaphocephaly or dolicocephaly</B>, the sagittal suture closes early and restricts groth of the head in the side to side direction. This forces the head to grow in a front to back direction which leads to a narrow elongated head. Usually there is an associated fullness or "bossing" to the forehead.</div> <div> <IMG SRC="0a8d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0a9d2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">Also known as <B>occipital plagiocephaly</B>, the lambdoidal suture closes early and leads to a flattening of the back of the head on the side of the sutural closure. There are compensatory changes in the shape of the head that cause a bulging of the opposite side in the back as well as bulging of the forehead on the opposite side. The ear on the closed side is often displaced backward as compared to the opposite side.</div> <div> <IMG SRC="0aad2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="0abd2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">A very similar appearence to lambdoidal synostosis can be seen due to prolonged resting of the head on one side only. This is the condition known as <B>positional molding </B>or <B>"lazy lambdoid"</B>. It can be difficult to tell the two conditions apart. In general there is flattening in the back of the head on the side the child tends to favor and compensatory bulging on the opposite side of the back of the head as well as bulging in the forehead on the side of the head that is flattened in the back. In addition, the ear on the flattened side tends to be displaced forward as compared to the opposite side. </div> <div> <TABLE BORDER="0" CELLPADDING="1" CELLSPACING="1" WIDTH="1184" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="VOID" RULES="NONE" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" > <tR> <tD VALIGN=TOP HEIGHT= 19 WIDTH="73"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="73" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="632"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="632" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="6"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="6" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="6"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="6" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=TOP HEIGHT= 301 WIDTH="73"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="73" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="632"><div> <IMG SRC="0acd2c80.jpg" border=0 width="210" height="200" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">The major sutures can be identified from a similar "birds' eye view". The two frontal bone plates meet at the metopic suture. Each frontal bone plate meets with a parietal bone plate at the coronal suture. The large paired parietal bone plates meet at the sagittal suture. Finally, each parietal bone plate meets the occipital bone plate at the lambdoidal suture</div> <bR> </tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="6"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="6" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="6"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="6" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="4"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="4" HSPACE="0" VSPACE="0"></tD> <tD VALIGN=TOP WIDTH="68"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="301" ALIGN="bottom" WIDTH="68" HSPACE="0" VSPACE="0"></tD> </tR> </TABLE></div> <div> C<B><U>omplications commonly associated with craniosynostosis:</U></B></div> <div> Craniosynostosis may cause the following complications: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">headache </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">vision loss </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">developmental problems </div> <bR> <bR> <div> <B>Other conditions in which </B><FONT SIZE="3" COLOR="#800000" FACE="Arial" ><B>craniofacial</B></FONT><B> anomalies may occur:</B> </div> <bR> <div> <B>Apert's Syndrome</B> - The head usually appears short in the front and back and may be pointed at the top. Other characteristics may include webbed fingers and toes, widely spaced and protruding eyes, and dental crowding.</div> <bR> <div> <B>Carpenter Syndrome</B> - This syndrome typically includes traits such as abnormally short fingers, webbed toes, extra toes, underdeveloped jaw, highly arched palate, widely spaced eyes, and/or low-set, deformed ears. Half of patients with Carpenter syndrome also have heart defects.</div> <bR> <div> <B>Cleft Palate / Cleft Lip </B>- The incomplete closure of the lip and/or the roof of the mouth results in this defect.</div> <bR> <div> <B>Crouzon's Syndrome</B> - Characterized by abnormalities in the skull and facial bones, this syndrome often causes the skull to be short in the front and the back. Flat cheek bones and a flat nose are also typical of this disorder.</div> <bR> <div> <B>Pfeiffer Syndrome</B> - This rare disorder is characterized by abnormalities of the skull, hands, and feet.</div> <bR> <div> <B>Saethe-Chotzen</B> - An unusually short or broad head is usually an indicator of this disorder. In addition, the eyes may be spaced wide apart and have droopy eyelids, and fingers may be abnormally short and webbed</div> <div> <B>Isolated Craniosynostosis</B><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Scaphocephaly</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Trigonocephaly</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Brachycephaly</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Oxycephaly</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Plagiocephaly</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Kleeblattschadel</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <bR> <bR> <div> <B><U>Carpenters Syndrome</U></B><FONT SIZE="3" COLOR="#000000" FACE="Arial" ><B><U> <IMG SRC="10cd8970.gif" border=0 width="216" height="151" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></U></B></FONT></div> <div> Carpenters Syndrome: Carpenter’s syndrome is a very rare <FONT SIZE="3" COLOR="#800000" FACE="MS Sans Serif" >craniofacial</FONT> condition. </div> <div> There are approximately 40 reported cases to date and it occurs as an autosomal recessive inherited gene.</div> <bR> <bR> <div> <B>Characteristics:</B></div> <div> The physical manifestation of Carpenter’s Syndrome is characterized by and include:</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tower shaped skull<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Presence of additional or fused fingers and toes<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Reduced height<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Obesity<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mental Deficiency<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Often associated with this defect is marked cranial asymmetry described as a "cloverleaf" skull <FONT SIZE="3" COLOR="#800000" FACE="MS Sans Serif" >anomaly</FONT> caused by the craniosynostosis.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Also, there is mild down sloping of the eyes, epicanthal folds, as well as malformations of the eyes themselves. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The ears of these patients are low set, their necks are short, and their mandible may be somewhat small. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Commonly seen in these patients is a highly arched and somewhat narrow palate. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The mental deficiency seen with these patients varies from mild to severe, although multiple cases have been reported with normal intelligence. </div> <bR> <div> <B>Cause:</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of this deformity is unknown. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The occurrence of this syndrome is extremely rare.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Although, some cases of effected siblings have been reported, usually the parents are not affected and the risk for future children to have Carpenter’s is minimal.</div> <bR> <div> <B>Expectations:</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Patients with Carpenter’s syndrome can have some problems with speech due to the presence of the highly arched and vaulted palate. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The growth of these patients is limited by the syndrome. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">They usually exhibit a short, stock stature. </div> <bR> <div> <B>Treatment: </B></div> <div> Due to the extremely low frequency of these cases, the treatment plans vary greatly from patient to patient. The treatment plan usually includes surgery in the first year of life to correct their cranial deformity. This is performed first to insure there is adequate volume of the cranial vault to support the rapid growth of the brain during this period of life. These procedures may need to be done in one stage or two stages depending on the degree of the deformity. If necessary, midface advancement and jaw surgery are done to provide adequate orbital volume and appropriate occlusion. Hand reconstruction is done early in life by a plastic surgeon hand specialist to allow for the best functional results. </div> <bR> <bR> <bR> <div> <TABLE BORDER="0" CELLPADDING="1" CELLSPACING="1" WIDTH="915" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="VOID" RULES="NONE" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" > <tR> <tD VALIGN=CENTER HEIGHT= 165 WIDTH="304"><div> <B><U> <A NAME="aperts_syndrome"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A></U></B><B><U>Aperts Syndrome<IMG SRC="10ed88d0.gif" border=0 width="216" height="141" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></U></B></div> </tD> <tD VALIGN=CENTER WIDTH="604"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="165" ALIGN="bottom" WIDTH="604" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER COLSPAN=2 HEIGHT= 996 WIDTH="909"><div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Apert’s syndrome is a relatively uncommon craniofacial condition.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It occurs with a frequency of one in 160,000 live births.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The condition may be inherited with a frequency of 50% in the off-spring of an affected adult, or may develop as a spontaneous mutation.</div> <bR> <bR> <div> <B>Characteristics:</B></div> <div> The physical features of this condition were described by Frederick Apert in 1942 and include: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A tower-shaped skull due to craniosynostosis<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">An under-developed mid-face leading to recessed cheek bones and prominent eyes.<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Malocclusion<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Limb abnormalities such as webbing of the middle digits of the hands and feet<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some other features commonly seen in this condition are visual disturbances related to an imbalance of the muscles that move the eyes, a hearing loss due to recurrent ear infections, and varying degrees of acne. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There can be a reduced intellectual capacity in some individuals but there are some children with this condition who have normal intelligence. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Children with Apert’s have fusion of the bones of their fingers and toes, characterized by the "mitten-like appearance of their hands. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This is called syndactyly. Cardiac and gastrointestinal malformations may be present</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">in Apert’s patients which have not been described for those individuals with other syndromes. </div> <bR> <bR> <div> <B>Cause:</B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The basic cause of this is linked to a single gene alteration of Fibroblast Growth Factor. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Their occurrence is sporadic and extremely rare.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In most cases of Apert’s, the deformity occurs from abnormal occurrence in the genes which cannot be traced to a specific cause. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Usually, the parents are not affected and the risk for future children of that couple to have Apert’s is minimal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The offspring of an Apert’s patient have a 50-60% chance of inheriting the syndrome.</div> <bR> <bR> <div> <B>Expectations:</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Children with Apert’s syndrome may have unusual speech characteristics. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">They often have hyponasal resonance due to an under-developed midface, small nose, and excessively long soft palate.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> If there is a cleft palate, they may also have hypernasal resonance. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Articulation of speech sounds is often distorted due to the malocclusion and high arched palate.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Impaired hearing or a general developmental delay will also effect speech and language development.</div> <bR> <bR> <div> <B>Treatment Plan:</B></div> <div> Multiple staged surgery is the plan of treatment for children with Apert’s. The best time for release of the fused sutures is between three and six months of age; it may be performed up to 18 months of age. This early surgery allows the child’s brain to have plenty of room to grow. Besides release of other sutures, the frontal and other deformed bones will be repositioned (usually advanced) to correct the bulging eyes and upper facial deformities. The plastic surgeon and the neurosurgeon work with one another in the operating room to achieve the end result. If the mid-face and upper jaw still do not grow adequately, this procedure may need to be repeated in adolescence. The webbing of the fingers is normally addressed by separation of the digits in the first years of life in order to achieve better alignment and function of the hand. Sometimes, this may require several procedures to give the child adequate function.</div> </tD> </tR> </TABLE></div> <bR> <bR> <div> <B><U>Crouzon’s Syndrome</U></B><FONT SIZE="3" COLOR="#000000" FACE="Arial" > <IMG SRC="10fd8780.gif" border=0 width="216" height="120" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></FONT></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Crouzon’s syndrome, or craniofacial dystosis, is a rare deformity that is closely related to Apert’s syndrome. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Although many of the physical deficiencies associated with Apert’s are not present in the Crouzon’s patient, both are thought to have similar genetic origins. Of the 10,000 infants born each day in the United States, it is estimated that one of these infants will have Crouzon’s Syndrome. </div> <bR> <bR> <div> <B>Characteristics:</B></div> <bR> <div> Crouzon’s Syndrome patients have three distinct features:</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Underdeveloped midface with receded cheekbones or exophthalmos (bulging eyes)<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some other features commonly seen in these patients are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The mental capacity of Crouzon’s patients is usually in the normal range, however some mental delay has been reported.</div> <bR> <bR> <div> <B>Causes:</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of Crouzon’s syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Their occurrence is sporadic and extremely rare. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Usually, the parents are not affected and the risk for future children of that couple is minimal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The offspring of an Crouzon’s patient have a 50-60% chance of inheriting the syndrome due to the dominant characteristics of this gene.</div> <bR> <bR> <div> <B>Expectations:</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Children with Crouzon’s syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Unusual resonance and speech patterns can develop from either the small nose, the high arched palate, or the malocclusion.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> A cleft palate can be associated with this syndrome and is repaired as it is with any other cleft patient.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> As with other cleft patients, there can be hearing problems due to recurrent ear infections.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> With proper treatment, these patients can be productive and active members of mainstream society.</div> <bR> <bR> <div> <B>Treatment:</B></div> <div> Multiple staged surgery is the general treatment plan for patients with Crouzon’s syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. Skull reshaping may need to be repeated as the child grows to give the best possible results. In addition, depending on the severity of the skull deformity, this procedure may be done in one stage or two stages. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmus to correct the occlusion to an appropriate functional position and to provide for a more normal appearance. </div> <bR> <bR> <div> <B><U>Pfeiffer Syndrome</U></B><FONT SIZE="3" COLOR="#000000" FACE="Arial" ><B><U> <IMG SRC="110d8900.gif" border=0 width="216" height="144" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></U></B></FONT></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pfeiffer syndrome, like the other craniosynostotic syndromes, is caused by a genetic mutation. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The physical manifestations of this syndrome match those of Crouzons and include broad thumbs and toes. </div> <bR> <div> <B>Characteristics: </B></div> <bR> <div> Pfeiffer’s Syndrome patients have the following abnormalities:</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Underdeveloped midface with receded cheekbones or exophthalmos<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Broad thumbs and big toes<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some other features commonly seen in these patients are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The mental capacity of Pfeiffer patients is usually in the normal range, however some mental delay has been reported.</div> <bR> <bR> <div> <B>Causes:</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of Pfeiffer syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Most cases are sporadic and rare.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Usually, the parents are not affected and the risk for future children of that couple is minimal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The offspring of an Pfeiffer patient have a 50-60% chance of inheriting the syndrome due to the dominant characteristics of this gene.</div> <bR> <bR> <div> <B>Expectations:</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Children with Pfeiffer syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Unusual resonance and speech patterns can develop from either the small nose, the high arched palate, or the malocclusion.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> A cleft palate can be associated with this syndrome and is repaired as it is with any other cleft patient. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">As with other cleft patients, there can be hearing problems due to recurrent ear infections. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">With proper treatment, these patients can be productive and active members of main stream society.</div> <bR> <bR> <div> <B>Treatment:</B></div> <div> Multiple staged surgery is the general treatment plan for patients with Pfeiffer syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. Skull remodeling may need to be repeated as the child grows. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmos and to correct the occlusion to an appropriate functional position. Although there is a significant malformation of the fingers and toes, usually these function adequately and do not require the surgical attention of a plastic surgeon hand specialist.</div> <bR> <bR> <div> <TABLE BORDER="0" CELLPADDING="1" CELLSPACING="1" WIDTH="1033" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="VOID" RULES="NONE" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" > <tR> <tD VALIGN=CENTER HEIGHT= 147 ><NOBR><div> <B><U>Saethre-Chotzen Syndrome</U></B></div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="716"><div> <IMG SRC="111d88d0.gif" border=0 width="216" height="141" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> </tD> </tR> <tR> <tD VALIGN=CENTER COLSPAN=2 HEIGHT= 939 WIDTH="1027"><div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Saethre-Chotzen syndrome is a rare deformity that is closely related to Crouzon syndrome and both are thought to have similar genetic origins. </div> <bR> <bR> <div> <B>Characteristics:</B></div> <bR> <bR> <div> Saethre-chotzen syndrome patients have some distinct features:</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Underdeveloped midface which can be interpreted as either receded cheekbones or exophthalmus<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Low set hairline<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Bilateral congenital ptosis or drooping of the upper eyelids<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some other features commonly seen in these patients are visual disturbances related to an imbalance or absence of the muscle that moves the eyes which usually requires surgery to correct.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Also, ptosis of the eyelid is prevalent in these patients. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There may be hearing loss due to recurrent ear infections. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The mental capacity of these patients is usually in the normal range, however some mental delay has been reported.</div> <bR> <bR> <div> <B>Causes:</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of Saethre-Chotzen syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. Their occurrence is sporadic and extremely rare.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Usually, the parents are not affected and the risk for future children of that couple is minimal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The offspring of an Saethre-Chotzen patient have a 50-60% chance of inheriting the syndrome due to the dominant characteristics of this gene.</div> <bR> <bR> <div> <B>Expectations:</B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Children with Saethre-Chotzen syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Unusual resonance and speech patterns can develop from either the small nose, the high arched palate, or the malocclusion.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> A cleft palate can be associated with this syndrome and is repaired as it is with any other cleft patient. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">As with other cleft patients, there can be hearing problems due to recurrent ear infections.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> These patients may also experience difficulty with their vision.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The presence of ptosis of the eyelids and the imbalance of absence of some of the muscles of the eye can contribute a great deal to this problem. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Surgery is often required to correct this malformation. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">With proper treatment, these patients can be productive and active members of mainstream society.</div> <bR> <bR> <div> <B>Treatment:</B></div> <div> Multiple staged surgery is the general treatment plan for patients with Saethre-Chotzen syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. This procedure may need to be repeated in the life of the child. In addition, depending on the severity of the skull deformity, this procedure may be done in one stage or two stages. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmus and to correct the occlusion to an appropriate functional position. Eye muscle surgery often needs to be performed by a pediatric ophthalmologist to correct the imbalance in the muscular structures of the eye as well as the ptosis of the eyelids.</div> </tD> </tR> </TABLE></div> <bR> <bR> </td> </tr></table></body>