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

K W Gripp; L Nicholson; C I Scott Jr

doi:10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O

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

Am J Med Genet. 1996 Feb 2;61(4):382-6. doi: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O.

Authors

K W Gripp¹, L Nicholson, C I Scott Jr

Affiliation

¹ Department of Pediatrics, Thomas-Jefferson University, Philadelphia, Pennsylvania, USA.

PMID: 8834052
DOI: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O

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.

MeSH terms

Abnormalities, Multiple / physiopathology*
Adolescent
Adult
Cataract / congenital
Child
Deafness / congenital
Down Syndrome
Dwarfism
Face
Female
Humans
Intellectual Disability
Syndrome