Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation

J P Fryns; J Delooz; H Van Den Berghe

doi:10.1136/jmg.29.9.676

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation

J Med Genet. 1992 Sep;29(9):676-7. doi: 10.1136/jmg.29.9.676.

Authors

J P Fryns¹, J Delooz, H Van Den Berghe

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

Abstract

A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Child, Preschool
Face / abnormalities*
Female
Genitalia, Female / abnormalities
Hair / abnormalities
Humans
Intellectual Disability*
Nose / abnormalities
Syndrome
Toes / abnormalities