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Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18.
Am J Med Genet. 2001 Aug 15; 102(3):293-6.AJ

Abstract

Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome confirmed by chromosome examination. The fetus also had a massively distended bladder with parchment-thin wall, microcolon, intestinal malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in the colon or bladder. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity. The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Thus, its previously undescribed presence in trisomy 18 further suggests etiologic heterogeneity.

Authors+Show Affiliations

Department of Pathology, University of South Florida, Tampa, Florida 33601, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11484210

Citation

Chamyan, G, et al. "Megacystis-microcolon-intestinal Hypoperistalsis Syndrome and Aganglionosis in Trisomy 18." American Journal of Medical Genetics, vol. 102, no. 3, 2001, pp. 293-6.
Chamyan G, Debich-Spicer D, Opitz JM, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. Am J Med Genet. 2001;102(3):293-6.
Chamyan, G., Debich-Spicer, D., Opitz, J. M., & Gilbert-Barness, E. (2001). Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. American Journal of Medical Genetics, 102(3), 293-6.
Chamyan G, et al. Megacystis-microcolon-intestinal Hypoperistalsis Syndrome and Aganglionosis in Trisomy 18. Am J Med Genet. 2001 Aug 15;102(3):293-6. PubMed PMID: 11484210.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. AU - Chamyan,G, AU - Debich-Spicer,D, AU - Opitz,J M, AU - Gilbert-Barness,E, PY - 2001/8/3/pubmed PY - 2001/9/14/medline PY - 2001/8/3/entrez SP - 293 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 102 IS - 3 N2 - Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome confirmed by chromosome examination. The fetus also had a massively distended bladder with parchment-thin wall, microcolon, intestinal malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in the colon or bladder. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity. The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Thus, its previously undescribed presence in trisomy 18 further suggests etiologic heterogeneity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11484210/Megacystis_microcolon_intestinal_hypoperistalsis_syndrome_and_aganglionosis_in_trisomy_18_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=102&issue=3&spage=293 DB - PRIME DP - Unbound Medicine ER -