title: Upper limb malformations in DiGeorge syndrome.
abstract: We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions.
authors.affiliation: Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: L
authors.initials: L
authors.lastname: Iserin
authors.forename: D
authors.initials: D
authors.lastname: Théophile
authors.forename: D
authors.initials: D
authors.lastname: Sidi
authors.forename: C
authors.initials: C
authors.lastname: Vervel
authors.forename: J P
authors.initials: JP
authors.lastname: Padovani
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000150:complications / Q000235:genetics*