New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers

C. Borrone; M. Di Rocco; F. Crovato; G. Camera; C. Gambini

New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers

C. Borrone, M. Di Rocco, F. Crovato, G. Camera, C. Gambini

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.

Original language	English
Pages (from-to)	228-234
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	46
Issue number	2
Publication status	Published - 1993

Keywords

gingival hypertrophy
mitral valve prolapse
osteolysis
thick skin

ASJC Scopus subject areas

Genetics(clinical)

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abstract = "We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.",

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AU - Camera, G.

AU - Gambini, C.

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