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Keywords:

  • madelung deformity;
  • GNAS;
  • albright hereditary osteodystrophy;
  • brachydactyly type E

Abstract

Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E-like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene. © 2011 Wiley-Liss, Inc.