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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.
AuthorsY Dror, P Durie, P Marcon, M H Freedman
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 78 Issue 1 Pg. 67-9 (Jun 16 1998) ISSN: 0148-7299 [Print] United States
PMID9637427 (Publication Type: Case Reports, Journal Article)
Topics
  • Exocrine Pancreatic Insufficiency (complications)
  • Hand Deformities, Congenital (complications, diagnostic imaging)
  • Humans
  • Infant
  • Male
  • Myelodysplastic Syndromes (complications, diagnostic imaging)
  • Radiography
  • Thumb (abnormalities, diagnostic imaging)

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