Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.
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.
Der Kaloustian
V M
VM
Department of Pediatrics, McGill University School of Medicine, McGill Centre for Human Genetics, Montreal, Quebec, Canada.
McIntosh
N
N
Silver
K
K
Blaichman
S
S
Halal
F
F
D002648:Child; D003878:Dermatoglyphics; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*