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Am J Med Genet. 1996 Feb 2;61(4):382-6.

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

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Department of Pediatrics, Thomas-Jefferson University, Philadelphia, Pennsylvania, USA.


We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.

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