title: Genochondromatosis type I: A clinicoradiological study of four family members.
abstract: 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.
authors.affiliation: Lady Hardinge Medical College, New Delhi, India.
authors.forename: Atul
authors.initials: A
authors.lastname: Sareen
authors.affiliation: INMAS, Scientist "E" division of PET imaging, New Delhi, India.
authors.forename: Maria M
authors.initials: MM
authors.lastname: D'souza
authors.affiliation: Lady Hardinge Medical College, New Delhi, India.
authors.forename: Kanakeya Bachha
authors.initials: KB
authors.lastname: Reddy
authors.affiliation: Lady Hardinge Medical College, New Delhi, India.
authors.forename: Rajesh Kumar
authors.initials: RK
authors.lastname: Kanojia
authors.affiliation: Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Kumar
mesh_terms: D000293:Adolescent; D000328:Adult; D001859:Bone Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D018210:Chondromatosis / Q000000981:diagnostic imaging* / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000000981:diagnostic imaging* / Q000473:pathology*; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000473:pathology
keywords: enchondroma; enchondromatosis; genochondromatosis