Upper limb malformations in DiGeorge syndrome |
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| Authors: | V. Cormier-Daire,L. Iserin,D. Th ophile,D. Sidi,C. Vervel,J. P. Padovani,M. Vekemans,A. Munnich,S. Lyonnet |
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| Affiliation: | Departement de Pédiatrie et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, H?pital des Enfants-Malades, Paris, France |
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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 22qll deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22qll deletions. © 1995 Wiley-Liss, Inc. |
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| Keywords: | DiGeorge syndrome upper limb anomalies 22qll deletion |
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