Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Berdon’s syndrome - First Report in Romania

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Berdon’s syndrome - First Report in Romania

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare motility disorder with high mortality rate described by Berdon in 1976. We present the first case of Berdon’s syndrome (heterozygous pathogenic variant in the ACTG2 gene) reported in Romania, a female newborn admitted in NIC...

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Bibliographic Details
Main Authors: Mihaela BIZUBAC, Luminita NINE, Andrada GEORGESCU, Loredana POPA, Andrei CAPITANESCU, Sebastian IONESCU, Carmen HERISEANU, Catalin CIRSTOVEANU
Format: Article
Language:English
Published: Media Med Publicis 2023-09-01
Series:Modern Medicine
Subjects:
mmihs
actg2 gene
total parenteral nutrition
ileostomy
gastrostomy
clean intermittent catheterization
multiorgan failure
Online Access:https://medicinamoderna.ro/wp-content/uploads/2023/09/Megacystis-Microcolon-Intestinal-Hypoperistalsis-Syndrome-Berdons-syndrome-First-Report-in-R.pdf

Internet

https://medicinamoderna.ro/wp-content/uploads/2023/09/Megacystis-Microcolon-Intestinal-Hypoperistalsis-Syndrome-Berdons-syndrome-First-Report-in-R.pdf

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