Kniest syndrome.
Indian Pediatr
;
2007 Dec; 44(12): 931-3
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Vision Disorders
/
Retinal Detachment
/
Humans
/
Male
/
Child
/
Ultrasonography, Prenatal
/
Diagnosis, Differential
/
Dwarfism
/
Fetal Diseases
Type of study:
Diagnostic study
Language:
English
Journal:
Indian Pediatr
Year:
2007
Type:
Article
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