A Case of Spondyloepiphyseal Dysplasia Congenita
Journal of the Korean Pediatric Society
;
: 716-720, 1997.
Artigo
em Coreano
| WPRIM
| ID: wpr-165855
ABSTRACT
Spondyloepiphyseal dysplasia congenita is one of the osteochondrodysplasia, used to be diagnosed by clinical symptoms and radiologic findings. Clinical findings are short-trunk dwarfism, oval face, hypertelorism, short neck, kyphosis, lordosis, joint instability, coxa vara, pectus excuvatum, cleft palate, severe myopia, retinal detachment, deafness, and radiologic findings are thoracic kyphosis, lumbar lordosis, platyspondyly, anterior flaring of ribs, delayed ossification of head of humerus and femur, delayed ossification of pubic bone, short femoral neck, often metaphyseal irregularity. The etiology was known as only family disorder, at now a gene mutation of COL2A1 at chromosome 12. So it is classified as the type II collagenopathy. Authors had experienced a case of spondyloepiphyseal dysplasia congenita with clinical and radiologic findings.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Osso Púbico
/
Costelas
/
Cromossomos Humanos Par 12
/
Descolamento Retiniano
/
Genes vif
/
Fissura Palatina
/
Surdez
/
Nanismo
/
Fêmur
Limite:
Animais
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1997
Tipo de documento:
Artigo
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