Results 71 to 80 of about 7,715 (213)

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Anorectal malformation coexisting with Hirschsprung′s disease: A report of two patients

African Journal of Paediatric Surgery, 2012
Anorectal Malformation (ARM) and Hirschsprung′s Disease (HD) are common causes of congenital intestinal obstruction in children. Simultaneous occurrence of both conditions is rare.
Christopher Suiye Lukong, Philip M Mshelbwala, Mark A Anumah, Emmanuel A Ameh, Paul T Nmadu   +4 more
doaj   +1 more source

Assessment of Double Outlet Left Ventricle in Pediatrics Using Transthoracic Echocardiography and Computed Tomographic Angiography

Pediatric Discovery, Volume 3, Issue 4, December 2025.
The clinical manifestation of DOLV was atypical. TTE has a relatively high diagnostic accuracy for DOLV in pediatric, which is very valuable for its early detection. ABSTRACT Double outlet left ventricle (DOLV) is a rare congenital cardiac anomaly in which both great arteries originate entirely or predominantly from the morphologic left ventricle.
Xu Zhu, Guangyi Zhong, Xiaojuan Ji, Xue Xiang, Min Zheng, Huina Yan, Rui Li   +6 more
wiley   +1 more source

Rectal Atresia or Web: A Rare Cause of Neonatal Obstruction – Case Report and Literature Review

Journal of Indian Association of Pediatric Surgeons
Rectal atresia (RA) and stenosis are rare anorectal malformations presenting with distal obstruction despite a normally positioned anus. We report a neonate with type II RA managed by posterior sagittal web excision using the Heineke-Mikulicz technique ...
Kaushal Kulkarni, Nishant Agarwal, Veeravel Ramasamy, Basant Kumar   +3 more
doaj   +1 more source

Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

Reproductive Biology and Endocrinology, 2012
Background The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex ...
Oppelt Patricia G, Lermann Johannes, Strick Reiner, Dittrich Ralf, Strissel Pamela, Rettig Ingo, Schulze Christine, Renner Stefan P, Beckmann Matthias W, Brucker Sara, Rall Katharina, Mueller Andreas   +11 more
doaj   +1 more source

A persistent hymen resulting in an open cervix but closed pyometra and pyocolpos in a mixed‐breed female domestic dog

Veterinary Record Case Reports, Volume 13, Issue 4, December 2025.
Abstract A rescued mixed‐breed (Africanis type), entire, female dog, approximately 2 years old, with an unknown history, presented with a prominent perineal swelling between the anus and vulva. Ultrasound identified it as a fluid‐filled structure, and an aspirate revealed an exudate consisting of degenerate neutrophils, bacterial cocci and rods.
Taylor June Kruger, Adriaan Kitshoff, Johan P. Schoeman, Sara Nicolene Hoepner, Josef Hanekom   +4 more
wiley   +1 more source

Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

Zdorovʹe Rebenka, 2012
There were carried out collection and analysis of clinicoepidemiological and medical-statistic data from 162 sources of primary documentation (childbirth history (096/o form) and the development of newborns (097/o form)) about children with congenital ...
Zborovska N.V. Zborovska N.V., Lukyanenko N.S. Lukyanenko N.S., Kitsera N.I. Kitsera N.I.   +2 more
doaj   +1 more source

A Rare Obstetric Outcome in Uterus Didelphys with Obstructed Hemivagina and Ipsilateral Renal Agenesis [PDF]

, 2012
Background: The unique clinical syndrome of uterus didelphys, obstructed hemivagina, and ipsilateral renal anomaly is very rare and can be quite difficult to recognize because of the enormous heterogeneity in its clinical presentation.
Francisco, C, Lermann, R, Mendes, N, Palma, F   +3 more
core   +1 more source

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome

Neurogastroenterology &Motility, Volume 37, Issue 12, December 2025.
Ganglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Björn Ersson, Elisabet Gustafson, Johan Danielson, Irina Alafuzoff   +3 more
wiley   +1 more source

Trends in congenital anomalies in Europe from 1980 to 2012.

PLoS ONE, 2018
BackgroundSurveillance of congenital anomalies is important to identify potential teratogens.MethodsThis study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012).
Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Helen Dolk   +29 more
doaj   +1 more source