An unusual connective tissue disease in mother and son: a "new" type of Ehlers-Danlos syndrome?
A 23-year-old woman and her 2 1/2-year-old son both had large hernias, positional foot deformities, abnormal thoracic shape, asthma, and severe eczematoid dermatitis. Their facial appearance was quite similar and included asymmetry with prominent nasal bridge and small jaw. In addition, the mother had severe thoracolumbar kyphoscolosis and "cigarette paper" scars over her legs. She died after rupture of a a thoracic aortic aneurysm and was found on postmortem examination to have cystic medionecrosis of the aorta and myxomatous degeneration and elongation of the mitral and tricuspid valves. The family history was otherwise negative; there was no consanguinity. The connective tissue disease in this mother and her son appears to be a previously unrecognized dominantly-inherited disorder with some similarity to classical Ehlers-Danlos syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree