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This compilation details various clinical reports and literature reviews on Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), an autosomal recessive disorder characterized by urinary and intestinal abnormalities. It includes case studies from siblings, reports from Thailand, and insights into late sequelae and potential pathogenesis. Additionally, evidence of primary myocellular defects and prolonged survival cases are discussed, providing a comprehensive overview of this rare condition and its implications for affected individuals and their families.
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BIBLIOGRAFIA Garber A, Shohat M, Sarti D. Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings. Prenat Diagn 1990; 10:377- 7. Annéren G, Meurling S, Olsen L. Megacystis-microcolonintestinal hypoperistalsis síndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am J Med Genet 1991; 41:251-54. Manop J, Chamnanvankij S, Wattanasarn C. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Case Report in Thailand. J Med Assoc Thai 2004; 87:1385-88. Jiménez S, Moros M, Gimeno P, Castejón E, Ros L. Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal: a propósito de un caso de supervivencia prolongada. An Pediatr (Barc) 2004; 60:369-72. Srikanth MS, Ford EG, Isaac H, Mahour GH. Megacystis microcolon intestinal hypoperistalsis syndrome: late sequelae and possible pathogenesis. J Pediatr Surg 1993; 28:957-59. Ciftci AO, Cook RC, Van Velzen D. Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. J Pedriatr Surg 1996; 31:1706-11. Gillis DA, Grantmyre EB. Megacystis cicrocolon intestinal hypoperistalsis syndrome: survival of a male infant. J Pediatr Surg 1985; 20:279-81.