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Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

✍ Scribed by Richieri-Costa, Antonio ;Guion-Almeida, Maria Leine ;Freire-Maia, Newton ;Pinheiro, Marta

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 474 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440208

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✦ Synopsis

Abstract

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora–Ogur syndrome are discussed. © 1992 Wiley‐Liss, Inc.

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