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Genochondromatosis type I: A clinicoradiological study of four family members
Author(s) -
Sareen Atul,
D'souza Maria M.,
Reddy Kanakeya Bachha,
Kanojia Rajesh Kumar,
Kumar Ajay
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37247
Subject(s) - clavicle , asymptomatic , pathological , medicine , metaphysis , humerus , femur , anatomy , pathology , surgery
Genochondromatosis is an extremely rare autosomal dominant disorder, which manifests during childhood and tends to regress in adult life. The bony lesions are symmetrically distributed with characteristic localization at the metaphysis of proximal humerus and distal femur. Two types have been described based on the involvement of clavicle. Usually asymptomatic, sometimes patients may present with pathological fractures. In this communication, we describe four members of a family with Genochondromatosis type I, with some additional clinical and radiological findings not reported previously. © 2015 Wiley Periodicals, Inc.