AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, MENTAL-RETARDATION, AND SYNDACTYLY - THE ZLOTOGORA-OGUR SYNDROME

被引：14
|
作者：
RODINI, ESO [1 ]
RICHIERICOSTA, A [1 ]
机构：
[1] UNIV SAO PAULO, HOSP PESQUISA & REABIL LESOES LABIO PALATAIS, GENET HUMANA LAB, POB 620, BR-17043 BAURU, SP, BRAZIL
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 04期
关键词：
consanguinity autosomal recessive inheritance; MCA/MR syndrome;
D O I：
10.1002/ajmg.1320360420
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheritance are discussed.
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页码：473 / 476
页数：4
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