Document Detail

Kniest syndrome.
MedLine Citation:
PMID:  18175850     Owner:  NLM     Status:  MEDLINE    
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; Shivanand Gamanagatti; Anindita Sinha; Raju Sampangi
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  44     ISSN:  0019-6061     ISO Abbreviation:  Indian Pediatr     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-01-07     Completed Date:  2008-02-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  931-3     Citation Subset:  IM    
Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar , New Delhi 110 029, India.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Diagnosis, Differential
Dwarfism / diagnosis*,  ultrasonography
Fetal Diseases*
Retinal Detachment*
Ultrasonography, Prenatal*
Vision Disorders

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Fraser syndrome: recurrence in a family.
Next Document:  CINCA Syndrome.