Results 81 to 90 of about 2,226 (184)

Supplementary Material for: New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

, 2017
Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS.
Miller R.S. (4152685), Li X. (3218241), Gonzalez K. (4152691), Wilson A. (4152694), Tuzovic L. (4152682), Rohena L. (4152700), Guo J. (4144114), Tang S. (4152697), Shahmirzadi L. (4152688), LeDuc C.A. (4152703)   +9 more
core   +1 more source

Isolated fetal megacystis: A case report

, 2014
Fetal megacystis is an abnormally enlarged bladder appearing after 10 weeks of gestational age (GA), when the fetus starts to produce urine. The bladder forms one of the most readily identified structures in the fetus.
Rubbino G., Giuffrida E., Valenti O., Gulino F. A., Palumbo M. A., Giuffrida L., Fauzia M., Grasso F.   +7 more
core  

Early fetal megacystis: Is it possible to predict the prognosis in the first trimester?

, 2018
Objective: To evaluate the best management of fetal megacystis diagnosed in the first trimester and define the prognosis and the most appropriate follow-up as early as possible. Methods:
Giovanni Monni, Ambra Iuculano, Cristina Peddes   +2 more
core   +1 more source

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

Gastroenterology Research and Practice, 2009
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues.
Mehmet Melek, Yesim Edirne, Burhan Beger, Mecnun Cetin   +3 more
doaj   +1 more source

Megacystis microcolon intestinal hypoperistalsis syndrome overlapping prune belly syndrome

Journal of Pediatric Surgery Case Reports, 2018
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital visceral myopathy. We experienced a case of an infant with MMIHS with prune belly syndrome (PBS).
Hidehiko Maruyama, Yuichi Hasegawa, Rika Sugibayashi, Yuka Iwasaki, Shuhei Fujino, Shoichiro Amari, Junko Nagasawa, Yuka Wada, Hideshi Fujinaga, Keiko Tsukamoto, Kazunori Tahara, Takako Yoshioka, Yushi Ito, Haruhiko Sago   +13 more
doaj   +1 more source

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition

Cureus
The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital condition that falls within the spectrum of visceral myopathies. It is characterized by the presence of megacystis, microcolon, and
Marcia Mejía, Mónica Rocío Royero Arias, Jonathan Pimiento Figueroa, Walter Romero Espitia   +3 more
semanticscholar   +1 more source

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

, 2015
© 2015 S. Karger AG, Basel. Objective: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of ...
Tang, Sha, Wilson, Ashley, Glassberg, Kenneth, Zeng, Wenqi, Miller, Russell S., Sepulveda, Antonia R., Rotterdam, Heidi, Shahmirzadi, Layla, Leduc, Charles A., Mills, Ashley, Chung, Wendy K., Rohena, Luis, Guo, Jiancheng, Tuzovic, Lea, Li, Xiang, Gonzalez, Kelly, Anyane-Yeboa, Kwame   +16 more
core   +1 more source

Prognosis of Isolated First-Trimester Fetal Megacystis with Spontaneous Resolution

, 2017
<b><i>Objective:</i></b> Fetal megacystis has a poor prognosis. During the first trimester, it is frequently associated with chromosomal abnormalities or multiple malformations, but can also be isolated and resolve spontaneously ...
Noémie Girard, Paul Bussière, Benjamin Viaris de Lesegno, Anne-Gaël Cordier, Catherine Egoroff, Alexandra Benachi   +5 more
core   +1 more source

An unusual presentation of gastrointestinal obstruction in a three-year-old boy

The Turkish Journal of Pediatrics, 2009
We report a case presenting with severe intermittent intestinal obstruction, most probably due to enteric nervous system abnormality associated with megacystis and micturition difficulty.
Ozlem Boybeyi, Arbay Ozden Ciftçi, Haluk Topaloğlu   +2 more
doaj  

A CASE OF A RARE CONGENITAL DEFECT OF THE MUSCULOSKELETAL SYSTEM – SIRENOMELIA IN COMBINATION WITH MEGACYSTIS AND A SINGLE UMBILICAL ARTERY

Мать и дитя в Кузбассе, 2023
Sirenomelia (mermaid syndrome) is a congenital pathology that occurs due to a violation of the blood supply to the embryo. It is characterized by fusion of the lower extremities in combination with agenesis of the kidneys, aplasia of the sacrum, rectum ...
Наталия Игоревна Андрюк, Ольга Аркадьевна Соловьева, Светлана Леонидовна Стопичева, Людмила Викторовна Абрамова, Светлана Ивановна Елгина, Елена Владимировна Рудаева, Кира Борисовна Мозес, Вадим Гельевич Мозес   +7 more
doaj