Mandibulofacial Syndrome With Growth and Mental Retardation, Microcephaly, Ear Anomalies With Skin Tags, and Cleft Palate in a Mother and Her Son: Autosomal Dominant or X-Linked Syndrome?

被引：16

作者：

Guion-Almeida, Maria Leine ^{[1
]}

Vendramini-Pittoli, Siulan ^{[1
]}

Santos Passos-Bueno, Maria Rita ^{[2
]}

Zechi-Ceidei, Roseli Maria ^{[1
]}

机构：

[1] Univ Sao Paulo, HRAC, Dept Clin Genet, BR-17012900 Bauru, SP, Brazil

[2] Univ Sao Paulo, Inst Biosci, Ctr Human Genome, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 12期

基金：

巴西圣保罗研究基金会;

关键词：

mandibulofacial dysostosis; branchial arch; speech delay; TREACHER-COLLINS-SYNDROME; DYSOSTOSIS; MUTATION; TCOF1;

D O I：

10.1002/ajmg.a.32816

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance. (C) 2009 Wiley-Liss, Inc.

引用

页码：2762 / 2764

页数：3

共 36 条

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