Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.
A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with G-banding were normal. It is suggested that this syndrome is a dominant trait, the mother being the initial mutant.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001935:Branchioma / Q000235:genetics*; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D005799:Genes, Dominant; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000150:complications; D009154:Mutation; D011247:Pregnancy; D014898:Werner Syndrome