Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gastrointestinal manifestations of collagen diseases are very rare. The authors report on a patient who has features of Marfan syndrome with mobile liver caused by the absence of its suspensory ligaments. This patient presented with an acute intestinal obstruction secondary to a congenital band across the distal transverse colon. Recurrent intestinal obstruction after resection of the band necessitated the performance of partial colectomy with ileotransverse anastomosis. The patient's phenotypic features are suggestive but not diagnostic of Marfan syndrome. Nevertheless, isolated skeletal manifestations of Marfan syndrome with documented FBN1 gene mutation have been reported, suggesting the existence of milder forms of the syndrome not exhibiting the classic diagnostic criteria. The authors postulate that the absence of suspensory ligaments of the liver in this patient could be attributed to the defective connective tissue of Marfan syndrome.
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PMID:The association of absent suspensory ligaments of the liver and Marfan syndrome. 1054 80