title: Duplication of distal thumb phalanx in Shwachman-Diamond syndrome.
abstract: 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 likely a rare skeletal manifestation of SDS and that SDS should be considered in the differential diagnosis of patients with bone marrow failure and duplication of the thumb along with Blackfan-Diamond/Aase syndrome and Fanconi's anemia.
authors.affiliation: Division of Hematology and Oncology, The Hospital for Sick Children and the University of Toronto, Ontario, Canada.
authors.forename: Y
authors.initials: Y
authors.lastname: Dror
authors.forename: P
authors.initials: P
authors.lastname: Durie
authors.forename: P
authors.initials: P
authors.lastname: Marcon
authors.forename: M H
authors.initials: MH
authors.lastname: Freedman
mesh_terms: D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging