Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis

Loading...
Thumbnail Image
Authors
Childs, Alexandra J.
Mabin, David C.
Turnpenny, Peter D.
Journal
American Journal of Medical Genetics. Part A.
Type
Case Report
Publisher
Wiley
Rights
© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
CC0 1.0 Universal
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.
Citation
Childs AJ, Mabin DC, Turnpenny PD. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Am J Med Genet A. 2020 Aug;182(8):1939-1943. doi: 10.1002/ajmg.a.61628. Epub 2020 May 31.
Note
This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.