[Multiple hereditary osteochondromatosis in a family]. / Osteocondromatosis múltiple hereditaria en una familia.
Bol Med Hosp Infant Mex
; 73(2): 111-116, 2016.
Article
em Es
| MEDLINE
| ID: mdl-29421192
ABSTRACT
BACKGROUND:
Multiple hereditary osteochondromatosis is characterized by the growing of benign cartilaginous tumors in form of exostosis, predominately in the metaphysis of long bones. It is described with a prevalence of 1/50,000 individuals. CASE REPORTS This article presents the clinical information and its autosomal dominant inheritance pattern where exotoxin genes (EXT gene family) were affected in a three-member family with multiple hereditary osteochondromatosis. The three patients showed altered arcs of movement of wrists, shoulders and ankles. Clinical diagnosis was confirmed with radiology and malignancy was ruled out in all patients.CONCLUSIONS:
This disease requires frequent medical evaluation, surgical bone correction when the normal function is involved, surveillance for malignant transformation, and genetic counseling.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Risk_factors_studies
Idioma:
Es
Revista:
Bol Med Hosp Infant Mex
Ano de publicação:
2016
Tipo de documento:
Article