Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome

V M Der Kaloustian; N McIntosh; K Silver; S Blaichman; F Halal

doi:10.1002/ajmg.1320430607

Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome

Am J Med Genet. 1992 Aug 1;43(6):942-5. doi: 10.1002/ajmg.1320430607.

Authors

V M Der Kaloustian¹, N McIntosh, K Silver, S Blaichman, F Halal

Affiliation

¹ Department of Pediatrics, McGill University School of Medicine, McGill Centre for Human Genetics, Montreal, Quebec, Canada.

PMID: 1384331
DOI: 10.1002/ajmg.1320430607

Abstract

We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome.

Publication types

Case Reports

MeSH terms

Child
Dermatoglyphics
Developmental Disabilities / genetics
Face / abnormalities
Female
Genes, Recessive
Humans
Male
Muscle Hypotonia / genetics
Phenotype
Radius / abnormalities*
Syndrome
Synostosis / genetics*
Ulna / abnormalities*