Familial aggregation of a "new" connective-tissue disorder: a nosologic problem.
Three brothers are described who had a severe connective-tissue disorder and died in infancy. They were the offspring of a consanguineous union and members of a kindred in which other paternal relatives were found to have the benign hypermobile form of Ehlers-Danios syndrome. The findings in the three brothers were not clearly representative of any known connective-tissue disorder. The authors feel that the brothers' phenotype is best explained as a result of genetic interaction between the Ehlers-Danios gene and another single unspecified gene in double dose.
D000015:Abnormalities, Multiple / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000783:Aneurysm / Q000150:complications; D001158:Arteries / Q000002:abnormalities; D002675:Child, Preschool; D003238:Connective Tissue; D003241:Consanguinity; D003483:Cutis Laxa / Q000175:diagnosis; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012871:Skin Diseases / Q000235:genetics*