New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers
| Autor: | C. Gambini, F. Crovato, M. Di Rocco, G. Camera, C. Borrone |
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| Rok vydání: | 1993 |
| Předmět: |
Adult
Male medicine.medical_specialty Osteolysis Skin Diseases Camptodactyly Mitral valve Internal medicine medicine Humans Mitral valve prolapse Genetics (clinical) Gingival Hypertrophy Mitral Valve Prolapse business.industry Brachydactyly Genetic disorder medicine.disease Dermatology Radiography medicine.anatomical_structure Endocrinology Bone Diseases Joint Diseases medicine.symptom business Acne conglobata |
| Zdroj: | American Journal of Medical Genetics. 46:228-234 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320460225 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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