Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
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.
Gripp
K W
KW
Department of Pediatrics, Thomas-Jefferson University, Philadelphia, Pennsylvania, USA.
Nicholson
L
L
Scott
C I
CI
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000151:congenital; D002648:Child; D003638:Deafness / Q000151:congenital; D004314:Down Syndrome; D004392:Dwarfism; D005145:Face; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D013577:Syndrome