Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?
We describe two mentally retarded sisters with intrauterine growth retardation and subsequent dwarfism and an unusual and characteristic face together with two other unrelated patients with similar manifestations. These four patients may represent a new autosomal recessive syndrome.
D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D013577:Syndrome