AUTOSOMAL RECESSIVE CLEFT-LIP PALATE, ECTODERMAL DYSPLASIA, AND MINOR ACRAL ANOMALIES - REPORT OF A BRAZILIAN FAMILY

被引：11
|
作者：
RICHIERICOSTA, A
GUIONALMEIDA, ML
FREIREMAIA, N
PINHEIRO, M
机构：
[1] UNIV FED PARANA, DEPT GENET, CAIXA POSTAL 19071, BR-81531 CURITIBA, PARANA, BRAZIL
[2] UNIV SAO PAULO, HOSP PESQUISA & REABIL LESOES LABIO PALATAIS, SERV GENET CLIN, BAURU, SP, BRAZIL
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 02期
关键词：
CLEFT LIP PALATE; ECTODERMAL DYSPLASIA; DIGITAL WEBBING; MARTINEZ SYNDROME; ZLOTOGORA-OGUR SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE;
D O I：
10.1002/ajmg.1320440208
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：158 / 162
页数：5
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