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Acta Paediatr. 2001 Jun;90(6):701-3.

Cornelia de Lange syndrome associated with cecal volvulus: report of a case.

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Department of Pediatric Surgery, Kitakyushu Municipal Medical Center, Japan.


Cornelia de Lange syndrome is known to be occasionally associated with gastrointestinal malformation. However, the occurrence of cecal volvulus in such anomalies is very rare. We report a 15-y-old Japanese boy with Cornelia de Lange syndrome associated with a cecal volvulus secondary to non-fixation of the cecum and ascending colon. The patient was admitted to our hospital because of abdominal pain and bilious vomiting. At emergent laparotomy, cecal volvulus with non-fixation of the ascending colon and cecum was diagnosed. Release of the cecal volvulus and the fixation of the cecum and ascending colon to the right retroperitonium were performed. The postoperative course was uneventful, except for sepsis caused by aspiration pneumonia soon after the operation.


Clinicians treating patients with this syndrome should be aware that such patients may be at risk for developing severe gastrointestinal anomalies, including cecal volvulus.

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