Results 11 to 20 of about 7,363 (177)
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant. [PDF]
Prenat DiagnPrenatal Diagnosis, Volume 46, Issue 4, Page 589-592, April 2026.
Crane HM +8 more
europepmc +2 more sources
Second trimester diagnosis of imperforate anus
The Egyptian Journal of Radiology and Nuclear Medicine, 2015 Imperforate anus or anorectal atresia is often associated with major fetal structural defects but it may also be an isolated abnormality. Prenatal diagnosis is difficult but may be assisted by ultrasound detection of enterolithiasis in dilated bowel and ...
H. El Mhabrech +4 more
doaj +1 more source
Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis. [PDF]
Birth Defects ResABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Adam AP +3 more
europepmc +2 more sources
Double Atresia of the Hindgut with Ileal Stenosis: A Case Report
Asian Journal of Surgery, 2004 An unusual case of imperforate anus with sigmoid colonic atresia and ileal stenosis is described. Only six cases of imperforate anus associated with colonic atresia have previously been reported in Japan.
Koushi Asabe, Akira Nagasaki
doaj +1 more source
Isolated imperforate anus in dizygotic twins
Journal of Pediatric Surgery Case Reports, 2023 The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins.
Dania Alameh +4 more
doaj +1 more source
OEIS Complex: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2021 The Omphalocele, Exstrophy, Imperforate anus and Spinal defects (OEIS) complex is a rare midline defect that consists of omphalocele, bladder exstrophy, imperforate anus, spinal and genital abnormalities.
Aaina Garg +2 more
doaj +1 more source
Prenatal diagnosis of congenital megalourethra with imperforate anus
BMC Pediatrics, 2019 Background Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus.
An-Shine Chao +2 more
doaj +1 more source
Frequency of Congenital Heart Diseases in Infants with Imperforate Anus and Esophageal Atresia Hospitalized in NICUs of Khorramabad Teaching Hospitals from 2016 to 2020 [PDF]
Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i ĪrānIntroduction: The frequency of congenital heart disease (CHD) is higher in people with gastrointestinal abnormalities compared to the normal population. Treatment of these patients may be difficult if there is a simultaneous abnormality.
Navid Azizi +4 more
doaj +1 more source
Case Reports in Obstetrics and Gynecology, 2021 Pulmonary hypoplasia is a rare entity in a fetus with imperforate anus. The fetus was diagnosed with high-type imperforate anus with rectourethral fistula based on the dilated fetal bowel and the presence of bowel calcification at 19 weeks of gestation ...
Masatake Toshimitsu +11 more
doaj +1 more source