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медицина
гипоперистальтический синдром
медицина
гипофизарный евнухоидизм
адипозогенитальная дистрофия
гипофизарное ожирение
медицина
церебро-окуло-фациоскелетный синдром
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 hypoperistalsis, 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 cause.
Walter Berdon et al. in 1976 first described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines.