ORTHOPEDIC FEATURES OF SHWACHMAN SYNDROME - A REPORT OF 2 CASES

Shwachman et al. described pancreatic exocrine insufficiency associated with cyclical neutropenia in children in 1964(20). A failure to thrive, the retardation of growth, steatorrhea, abnormalities of the bones and joints, and recurrent infections all suggest Shwachman syndrome in a child in whom cystic fibrosis has been excluded. Burke et al., in 1967, reported the association of metaphyseal chondrodysplasia with Shwachman syndrome. A broad spectrum of osseous abnormalities, giving rise to profound short-stature deformities, has since been found to be associated with this syndrome(1,8,14,18,21),(22). Fatalities due to overwhelming infections and to visceral hemorrhages also have been reported in association with this syndrome(2,11). To our knowledge, Shwachman syndrome has not been previously reported in the orthopaedic literature. We report the cases of two brothers who had this syndrome, who were followed from birth to skeletal maturity.