A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis

被引：4

作者：

Utine, Guelen Eda ^{[1
]}

Breckpot, Jeroen ^{[2
]}

Thienpont, Bernard ^{[2
]}

Alanay, Yasemin ^{[1
]}

Aksoy, Cemalettin ^{[3
]}

Boduroglu, Koray ^{[1
]}

Devriendt, Koenraad ^{[2
]}

机构：

[1] Hacettepe Univ, Dept Pediat, Clin Genet Unit, Ankara, Turkey

[2] Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium

[3] Hacettepe Univ, Dept Orthoped Surg & Traumatol, Ankara, Turkey

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 04期

关键词：

tsukahara syndrome; type A1 brachydactyly; short stature; microcephaly; mental retardation and ptosis;

D O I：

10.1002/ajmg.a.33325

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. (C) 2010 Wiley-Liss, Inc.

引用

页码：947 / 949

页数：3