Autopsy findings in two adult siblings with Coffin-Lowry syndrome.
We describe the major autopsy findings in two adult sibs of the original pedigree of Lowry et al [Am J Dis Child 121:496-500, 1971]. These results support the idea that Coffin-Lowry syndrome is a systemic connective tissue disorder. Visceral neuropathy was also noted as the basis of extensive intestinal diverticular disease.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology; D004240:Diverticulum / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007579:Jejunal Diseases / Q000235:genetics; D008297:Male; D013577:Syndrome; D014960:X Chromosome