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Free keywords:
Abnormalities, Multiple/*genetics/*pathology; Adolescent; Base Sequence; Brachydactyly/*radiography; Female; GTP-Binding Protein alpha Subunits, Gs/*genetics; Humans; Molecular Sequence Data; Mutation, Missense/*genetics; Sequence Analysis, DNA; Wrist/*abnormalities
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.
