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:
1
Índice:
IMSEAR
Assunto principal:
Síndrome
/
Transtornos da Visão
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Descolamento Retiniano
/
Humanos
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Masculino
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Criança
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Ultrassonografia Pré-Natal
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Diagnóstico Diferencial
/
Nanismo
/
Doenças Fetais
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Indian Pediatr
Ano de publicação:
2007
Tipo de documento:
Article