Mental retardation, robin sequence, and brachydactyly: Further confirmation of a new syndrome

被引：1

作者：

Gurrieri, F

Scarano, G

Garavelli, L

Della Monica, M

Lonardo, F

Cuda, D

Banchini, G

Opitz, JM

Neri, G

机构：

[1] Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med, I-00168 Rome, Italy

[2] Azienda Osped G Rummo, UO Genet Med, Benevento, Italy

[3] Arcispedale S Maria Nuova, Ambulatorio Genet Clin Div Pediat, Reggio Emilia, Italy

[4] Arcispedale S Maria Nuova, UO Otorinolaringoiatria, Reggio Emilia, Italy

[5] Arcispedale S Maria Nuova, Dipartimento Materno Infantile, Reggio Emilia, Italy

[6] Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 126A卷 / 02期

关键词：

new MCA/MR syndrome; cleft soft palate; short digits; Robin sequence;

D O I：

10.1002/ajmg.a.20575

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition. (C) 2003 Wiley-Liss, Inc.

引用

页码：204 / 207

页数：4

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