Kniest syndrome.
Indian Pediatr
;
2007 Dec; 44(12): 931-3
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Síndrome
/
Trastornos de la Visión
/
Desprendimiento de Retina
/
Humanos
/
Masculino
/
Niño
/
Ultrasonografía Prenatal
/
Diagnóstico Diferencial
/
Enanismo
/
Enfermedades Fetales
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2007
Tipo del documento:
Artículo
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