title: Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
abstract: 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.
authors.affiliation: Department of Pediatrics, Thomas-Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: Gripp
authors.forename: L
authors.initials: L
authors.lastname: Nicholson
authors.forename: C I
authors.initials: CI
authors.lastname: Scott
mesh_terms: 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