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单词 Megacystis microcolon intestinal hypoperistalsis syndrome
释义

Megacystis microcolon intestinal hypoperistalsis syndrome

英语百科

Berdon syndrome

Berdon syndrome has an autosomal recessive pattern of inheritance.

Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old." The Ann Arbor News reported a five year old survivor at the end of 2015. It is more prevalent in females, 7 females to 3 males, and is characterized by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalis, hydronephrosis, and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown aetiology.

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更新时间:2025/6/22 19:19:38