Total: 1 |
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PMID (PMCID) | ||
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26882209 |
FEMALE | Infant |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. | ||
Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7. |
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The daughter, born at 38 weeks after a complication of oligohydramnios, had a more severe presentation, demonstrating toe syndactyly, telecanthus, anal stenosis, clitoromegaly, bilateral renal hypoplasia, ureteral reflux, urogenital sinus, and congenital heart disease amongst others. |