Kniest syndrome.
Indian Pediatr
;
2007 Dec; 44(12): 931-3
Artigo
em Inglês
| IMSEAR
| ID: sea-13196
ABSTRACT
A 12-year-old male child presented with bilateral visual loss and short stature. He had dysmorphic faces, barrel shaped chest and short limbs with enlarged peripheral joints. In addition he had bilateral retinal detachment with secondary cataract formation. Skeletal survey revealed irregular platyspondyly, hypoplastic femoral head and enlarged epiphysis of long bones with cloud like calcification. Radiological features were diagnostic of Kniest syndrome. The child underwent pars plana lensectomy and a vitreo-retinal surgery with silicon oil infusion in the right eye for retinal detachment.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome
/
Transtornos da Visão
/
Descolamento Retiniano
/
Humanos
/
Masculino
/
Criança
/
Ultrassonografia Pré-Natal
/
Diagnóstico Diferencial
/
Nanismo
/
Doenças Fetais
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2007
Tipo de documento:
Artigo
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