Article
Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.
American journal of medical genetics - 1 Aug 1992
Der Kaloustian V M, McIntosh N, Silver K, Blaichman S, Halal F
Abstract excerpt
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.
Topics
- Child
- Dermatoglyphics
- Developmental Disabilities
- Face
- Female
- Genes, Recessive
- Humans
- Male
- Muscle Hypotonia
- Phenotype
- Radius
- Syndrome
- Synostosis