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Upper limb malformations in DiGeorge syndrome.

V Cormier-Daire·L Iserin·D Théophile·D Sidi·C Vervel·J P Padovani·M Vekemans·A Munnich·S Lyonnet
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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.

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Chromosome DeletionChromosomes, Human, Pair 22DiGeorge SyndromeFemaleFingersHand Deformities, CongenitalHumansInfant, NewbornMalePolydactylyCase ReportsJournal Article

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V Cormier-Daire, L Iserin, D Théophile, D Sidi, C Vervel, J P Padovani, M Vekemans, A Munnich, S Lyonnet. 1995-03-13. Upper limb malformations in DiGeorge syndrome.. https://doi.org/10.1002/ajmg.1320560111

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