RAPP-HODGKIN SYNDROME - REPORT OF A BRAZILIAN FAMILY

被引：13

作者：

RODINI, EOS ^{[1
]}

FREITAS, JAS ^{[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

基金：

美国国家卫生研究院;

关键词：

autosomal dominant inheritance; cleft palate; ectodermal dysplasia (1-2-3-4); tear duct anomaly;

D O I：

10.1002/ajmg.1320360418

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.

引用

页码：463 / 466

页数：4

共 17 条

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