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Limb anomalies in DiGeorge and CHARGE syndromes

✍ Scribed by Prasad, C.; Quackenbush, E. J.; Whiteman, D.; Korf, B.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
196 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis

Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies.

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