Case of Myhre syndrome with autism and peculiar skin histological findings

被引：33

作者：

Titomanlio, L

Marzano, MG

Rossi, E

D'Armiento, M

De Brasi, D

Vega, GR

Andreucci, MV

Orsini, AVM

Santoro, L

Sebastio, G

机构：

[1] Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy

[2] Univ Pavia, I-27100 Pavia, Italy

[3] Univ Naples Federico II, Dept Pathol, I-80131 Naples, Italy

[4] Univ Naples Federico II, Dept Neurol Sci, I-80131 Naples, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 103卷 / 02期

关键词：

Myhre syndrome; short stature; muscular build; autism;

D O I：

10.1002/ajmg.1517

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings. (C) 2001 Wiley-Liss, Inc.

引用

页码：163 / 165

页数：3

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