Kniest syndrome.

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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Subramanian S,Gamanagatti S,Sinha A,Sampangi R

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

931-3

issue

12

eissn

0019-6061

issn

0974-7559

journal_volume

44

pub_type

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