Facio-thoraco-genital syndrome: a newly recognized birth defect syndrome.
We report on an infant with multiple congenital anomalies, involving mainly the face, thorax, and genitalia. Because such features have not been reported before, we postulate that this may be a newly recognized syndrome, transmitted as an autosomal recessive.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities