Familial macroglossia-omphalocele syndrome.
A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the Rubinstein-Taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event.
D000311:Adrenal Glands / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D005877:Gigantism / Q000150:complications / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D007231:Infant, Newborn; D008260:Macroglossia / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000150:complications; D013577:Syndrome; D014472:Umbilicus / Q000002:abnormalities*