Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.
Curr Osteoporos Rep
; 15(5): 419-424, 2017 10.
Article
em En
| MEDLINE
| ID: mdl-28808977
ABSTRACT
PURPOSE OF REVIEW This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS:
The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
Curr Osteoporos Rep
Assunto da revista:
ORTOPEDIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Canadá