Genochondromatosis type I: A clinicoradiological study of four family members.

Autor: Sareen A; Lady Hardinge Medical College, New Delhi, India., D'souza MM; INMAS, Scientist 'E' division of PET imaging, New Delhi, India., Reddy KB; Lady Hardinge Medical College, New Delhi, India., Kanojia RK; Lady Hardinge Medical College, New Delhi, India., Kumar A; Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Nov; Vol. 167A (11), pp. 2758-66. Date of Electronic Publication: 2015 Jul 14.
DOI: 10.1002/ajmg.a.37247
Abstrakt: 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.)
Databáze: MEDLINE
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