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Indian J Med Sci ; 2010 Mar; 64(3) 140-143
Article in English | IMSEAR | ID: sea-145499

ABSTRACT

We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.


Subject(s)
Adolescent , Brachydactyly/epidemiology , Diagnosis , Dwarfism/epidemiology , Female , Humans , Lens Subluxation/epidemiology , Optic Atrophy/epidemiology , Pulmonary Valve Stenosis/epidemiology , Siblings , Weill-Marchesani Syndrome/etiology , Weill-Marchesani Syndrome/genetics
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