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Nutritional deficiency and the skin in Shwachman Syndrome

โœ Scribed by M. Rybojad; S. Cambiaghi; M.D. Vignon-Pennamen; C. Blanchet-Bardon; J. Moraillon; P. Morel


Book ID
108666899
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
856 KB
Volume
135
Category
Article
ISSN
0007-0963

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Shwachman-Diamond syndrome (SDS) comprises of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. We report on a child with SDS and duplication of distal thumb phalanx. This combination has not been reported previously. We suggest that supernumerary thumb is l

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## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m