DUPLICATION OF DISTAL THUMB PHALANX IN SHWACHMAN-DIAMOND-SYNDROME

Shwachman-Diamond syndrome (SDS) comprises of exocrine pancreatic dysf unction, various degree of pancytopenia, and metaphyseal dysplasia. We report on a child with SDS and duplication of distal thumb phalanx. T his combination has not been reported previously. We suggest that supe rnumerary thumb is likely a rare skeletal manifestation of SDS and tha t SDS should be considered in the differential diagnosis of patients w ith bone marrow failure and duplication of the thumb along with Blackf an-Diamond/Aase syndrome and Fanconi's anemia. (C) 1998 Wiley-Liss, In c.