Hypoplasia-Hyperplasia
Hypoplasia-Hyperplasia
Hypoplasia-Hyperplasia
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ע"<br />
שת/<br />
תבט/<br />
ד"<br />
י•<br />
46•<br />
Associated anomalies<br />
Anosmia, Hypogonadotropic hypogonadism – Kallman<br />
Autism – 30-40% (Gillberg & Steffenburg)<br />
Flat broad nose, Canthal displacement (Telecanthus)<br />
Flat cheek bones, long face.<br />
Arched palate, Bifid uvula<br />
Microstomia, Micrognathia, Microglossia<br />
Skin:<br />
Absent S.Q fat Café Au Lait spots<br />
Variable phenotype & Cross matching cause difficult<br />
genetic counceling AD, AR, XL patterns described
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