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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.