New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers.
Am J Med Genet
; 46(2): 228-34, 1993 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-8484415
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Doenças Ósseas
/
Prolapso da Valva Mitral
/
Artropatias
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Itália