Guidelines for genetic skeletal dysplasias for pediatricians
Annals of Pediatric Endocrinology & Metabolism
;
: 187-191, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-96142
ABSTRACT
Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ortopedia
/
Fenótipo
/
Cartilagem
/
Classificação
/
Diagnóstico
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2015
Tipo de documento:
Artigo
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