Clinical and Genetic Diagnosis of Multiple Osteochondromas in Rwandan Patients
Rwanda med. j. (Online)
; 69(3): 43-46, 2012.
Article
em En
| AIM
| ID: biblio-1269582
Biblioteca responsável:
CG1.1
ABSTRACT
Multiple Osteochondromas (MO) or hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder mainly characterized by multiple osteochondromas predominantly located at the growth plates of long bones. MO is a genetically heterogeneous disorder and results from mutations in EXT1 and EXT2 genes located on chromosome 8q23-q24 and 11p11-p12. We hereby report a case of a 23-year-old girl who presented characteristic clinical and radiological features of MO. The same clinical signs were observed in her relatives. The p.Arg340Cys mutation in the EXT1 gene was found in the proband confirming the clinical diagnosis. A surgical management was carried out in all affected bones which consisted of excision of the bigger and pain full osteochondromas. The patient was informed of her problem and genetic counseling was offered to the family's members
Texto completo:
1
Base de dados:
AIM
Assunto principal:
Pacientes
/
Exostose
/
Gerenciamento Clínico
Idioma:
En
Revista:
Rwanda med. j. (Online)
Ano de publicação:
2012
Tipo de documento:
Article