Upper limb malformations in DiGeorge syndrome.
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.
Cormier-Daire
V
V
Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.
Iserin
L
L
Théophile
D
D
Sidi
D
D
Vervel
C
C
Padovani
J P
JP
Vekemans
M
M
Munnich
A
A
Lyonnet
S
S
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*