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Autopsy findings in two adult siblings with Coffin-Lowry syndrome
G A Machin1, G L Walther, V M Fraser
1Department of Laboratory Medicine, Victoria General Hospital, British Columbia, Canada.
American Journal of Medical Genetics. Supplement
|January 1, 1987
Abstract:
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.