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Juxta‐epiphyseal pathological fracture of the proximal femur secondary to metaphyseal chondrodysplasia
Author(s) -
MEHLMAN C. T.,
MENELAUS M. B.
Publication year - 1990
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1990.tb02412.x
Subject(s) - medicine , pathological , malabsorption , femur , metaphysis , osteochondrodysplasia , chondrodysplasia punctata , ossification , surgery , anatomy , pathology
Metaphyseal chondrodysplasia is a rare disorder of which there are five types: the Jansen type, Schmid type, McKusick type, metaphyseal chondrodysplasia and thymolymphopenia, and metaphyseal chondrodysplasia with malabsorption and neutropenia also known as Shwachman's syndrome. All of the bony changes associated with these disorders are considered to be due to a primary defect in the metaphyseal portion of the growth plate. Accurate diagnosis is of importance as the members of the above‐mentioned pentad have varying genetic implications as well as widely varying prognoses. We report a case of juxta‐epiphyseal pathological fracture of the proximal femur secondary to Shwachman's syndrome. The characteristic radiological appearance and management of this complication have not been described. It is important that appropriate management be instituted in this condition because patients with Shwachman's syndrome carry a good prognosis both for length and quality of life.