Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome | Zendy

Gurrieri Fiorella | Zendy; Scarano Gioacchino | Zendy; Garavelli Livia | Zendy; Monica Matteo Della | Zendy; Lonardo Fortunato | Zendy; Cuda Domenico | Zendy; Banchini Giacomo | Zendy; Opitz John M. | Zendy; Neri Giovanni | Zendy

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

Author(s) -

Gurrieri Fiorella,

Scarano Gioacchino,

Garavelli Livia,

Monica Matteo Della,

Lonardo Fortunato,

Cuda Domenico,

Banchini Giacomo,

Opitz John M.,

Neri Giovanni

Publication year - 2003

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.20575

Subject(s) - brachydactyly , psychomotor retardation , genetics , pierre robin syndrome , medicine , anatomy , biology , pediatrics , pathology , alternative medicine , short stature

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. © 2003 Wiley‐Liss, Inc.

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