Article
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
American journal of medical genetics. Part A - 1 Jul 2010
Brunetti-Pierri Nicola, Lachman Ralph, Lee Kwanghyuk, Leal Suzanne M, Piccolo Pasquale, Van Den Veyver Ignatia B, Bacino Carlos A
Abstract excerpt
Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large, four-generation pedigree. The presentation in the affected patients included multiple anomalies, hypertelorism, iris colobomas, punched-out pigmentary abnormalities over the face and scalp,...
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