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Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
Author(s) -
Shkalim Vered,
BenSira Liat,
Inbar Dov,
Kaadan Walid,
BaselVanagaite Lina,
Straussberg Rachel
Publication year - 2011
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.33978
Subject(s) - agenesis of the corpus callosum , microcephaly , clubfoot , corpus callosum , corpus callosum agenesis , agenesis , deformity , renal agenesis , genetic syndromes , anatomy , medicine , genetics , biology , pediatrics , kidney
Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition. © 2011 Wiley‐Liss, Inc.