Results 41 to 50 of about 7,007 (150)

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

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

Taiwanese Journal of Obstetrics & Gynecology, 2007
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline
Chih-Ping Chen
doaj   +1 more source

Prenatal Evaluation of Scrotal Masses: A Systematic Literature Review

Prenatal Diagnosis, Volume 45, Issue 13, Page 1711-1722, December 2025.
ABSTRACT Evaluation of fetal genitalia is often neglected after determining fetal sex, yet the identification of a scrotal mass may suggest significant underlying conditions requiring specific management. We conducted a systematic literature review, following PRISMA guidelines and registered with PROSPERO (CRD42024559035), on the five most common ...
Federica Romanzi, Chiara Di Ilio, Chiara Airoldi, Gloria Anderson, Eleonora Torcia, Francesca Felici, Maria Vittoria Alesi, Rossana Cottone, Giulia Di Marco, Elvira Passananti, Alessandra Familiari, Tullio Ghi, Elisa Bevilacqua   +12 more
wiley   +1 more source

The Imperforate Anus Psychosocial Questionnaire (IAPSQ): Its construction and psychometric properties

Child and Adolescent Psychiatry and Mental Health, 2009
The origin of the present study was to develop the liaison work between the disciplines of child and adolescent psychiatry and paediatric surgery and nursing, so as to improve the quality of treatment and care of a group of children with imperforate anus
Christensson Kyllike, Brodin Ulf, Nisell Margret, Rydelius Per-Anders   +3 more
doaj   +1 more source

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS).
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo   +4 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

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Colonic atresia associated with imperforate anus in a patient with down syndrome, expect the unexpected

Journal of Pediatric Surgery Case Reports, 2018
We are describing an extremely rare clinical case of two congenital anomalies coexist simultaneously in a full term 18 months-old girl, known down syndrome with imperforate anus.
Ahmed Alahmari, Jamila Al Maary
doaj   +1 more source

Sirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Severe oligohydramnios with fetal anomalies, like sirenomelia, requires early diagnosis to prevent maternal complications such as infection or hemorrhage from delayed detection. Challenges in resource‐limited settings hinder timely intervention, emphasizing the need for improved screening and counseling to optimize outcomes and future ...
Sajjad Ahmed Khan, Bibisa Bhandari, Saurav Jha, Aron Neupane, Kshitiz Parajuli, Sweta Singh, Aditya Duhan, Fahad Farooq   +7 more
wiley   +1 more source

Treatment of Congenital Rectal Fistulae Associated with Imperforate Anus in Females

Indian Journal of Plastic Surgery, 1972
The results of perineal proctoplasty in 10 cases of congenital low rectal fistulas associated with imperforate anus in female babies have been presented.
A. K. Waklu, R. K. Tandon
doaj   +1 more source