title: Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?
abstract: 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.
authors.affiliation: Neurogenetic Clinic and Child Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. shine6@walla.co.il
authors.forename: Vered
authors.initials: V
authors.lastname: Shkalim
authors.forename: Liat
authors.initials: L
authors.lastname: Ben-Sira
authors.forename: Dov
authors.initials: D
authors.lastname: Inbar
authors.forename: Walid
authors.initials: W
authors.lastname: Kaadan
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003025:Clubfoot / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D013577:Syndrome