Kniest syndrome.
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.
Subramanian
Subramanian
S
Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar , New Delhi 110 029, India. drsubbusmc@yahoo.co.in
Gamanagatti
Shivanand
S
Sinha
Anindita
A
Sampangi
Raju
R
D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005315:Fetal Diseases; D006801:Humans; D008297:Male; D012163:Retinal Detachment; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014786:Vision Disorders