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

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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)228-234
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume46
Issue number2
Publication statusPublished - 1993

Keywords

  • gingival hypertrophy
  • mitral valve prolapse
  • osteolysis
  • thick skin

ASJC Scopus subject areas

  • Genetics(clinical)

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