Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Issue 8 (31st May 2020)

• Record Type: Journal Article
• Authors: Childs, Alexandra J.; Mabin, David C.; Turnpenny, Peter D.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 8(2020)
• Page Start: 1939
• Page End: 1943
• Publication Date: 2020-05-31
• Subjects: choanal atresia -- ectrodactyly‐ectodermal dysplasia‐clefting syndrome -- EEC syndrome -- rectal stenosis -- TP63; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61628
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly‐ectodermal dysplasia‐clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.