Anophthalmia
Diagnosis certain
Updates to Case Attributes
Title
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Causes:
Idiopathicidiopathic/sporadicInheritedinherited as dominant, recessive, or sexlinked-linkedChromosomechromosome deletion in band 14q22-23 with associated polydactyly,as well as a deletion in 7 p15.1-21.1 associated with cryptophthalmos/anophthamos/anophthalmosTrisomytrisomy 13-15Geneticgenetic deletions involving SOX2,SIX6, and STRA6, with many new microdeletions being reported, including within PAX6, RAX, and SMOC1.Maternalmaternal infections during pregnancy (ie, rubella, toxoplasmosis)Oftenoften associated with syndromes with craniofacial malformation (Goldenhar syndrome, Hallermann-Streiff syndrome)
-<p>Causes</p><ul>-<li><p>Idiopathic/sporadic</p></li>-<li><p>Inherited as dominant, recessive, or sex linked</p></li>-<li><p>Chromosome deletion in band 14q22-23 with associated polydactyly,<sup></sup>as well as a deletion in 7 p15.1-21.1 associated with cryptophthalmos/anophthamos</p></li>-<li><p>Trisomy 13-15</p></li>-<li><p>Genetic deletions involving <em>SOX2,</em><em>SIX6</em>, and <em>STRA6,</em> with many new microdeletions being reported, including within <em>PAX6</em>, <em>RAX</em>, and <em>SMOC1</em>.</p></li>-<li><p>Maternal infections during pregnancy (ie, rubella, toxoplasmosis)</p></li>-<li><p>Often associated with syndromes with craniofacial malformation (<em><sup> </sup></em> Goldenhar syndrome, Hallermann-Streiff syndrome)</p></li>- +<p>Causes:</p><ul>
- +<li><p>idiopathic/sporadic</p></li>
- +<li><p>inherited as dominant, recessive, or sex-linked</p></li>
- +<li><p>chromosome deletion in band 14q22-23 with associated polydactyly, as well as a deletion in 7 p15.1-21.1 associated with cryptophthalmos/anophthalmos</p></li>
- +<li><p>trisomy 13-15</p></li>
- +<li><p>genetic deletions involving <em>SOX2,</em><em>SIX6</em>, and <em>STRA6,</em> with many new microdeletions being reported, including within <em>PAX6</em>, <em>RAX</em>, and <em>SMOC1</em>.</p></li>
- +<li><p>maternal infections during pregnancy (ie, rubella, toxoplasmosis)</p></li>
- +<li><p>often associated with syndromes with craniofacial malformation (<a title="Goldenhar syndrome" href="/articles/goldenhar-syndrome">Goldenhar syndrome</a>, Hallermann-Streiff syndrome)</p></li>
Updates to Study Attributes
Caption
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Antenatal ultrasound
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