Autosomal recessive Silver-Russell syndrome.
Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was minimal. Parental consanguinity and affected siblings of both sexes strongly suggest autosomal recessive inheritance. Similar cases from literature are briefly reviewed.
Teebi
A S
AS
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome