Beckwith-Wiedemann syndrome in a mother and her son.
The Beckwith-Wiedemann syndrome--exomphalos, macroglossia and gigantism--occurred in a mother and her son. The clinical and metabolic features of this syndrome are described. We believe this is the first report of this syndrome affecting a mother and her son. An autosomal dominant pattern of inheritance is suggested.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face; D005260:Female; D005877:Gigantism / Q000150:complications / Q000235:genetics; D006554:Hernia, Umbilical / Q000150:complications / Q000151:congenital; D006801:Humans; D008297:Male; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities