Results 41 to 50 of about 4,190 (206)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

European Journal of Pediatric Surgery Reports, 2015
Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs).
Sotirios Siminas, Colin Tennant Baillie, Richard Turnock   +2 more
doaj   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Сочетанная патология у детей с аноректальными пороками развития (RUS) [PDF]

Саратовский научно-медицинский журнал, 2007
The study was undertaken to review the incidence and types of associated congenital anomalies in patients with anorectal malformations (ARM ...
Morozov D.A., Nikitina A.N., Tichonova I.A.   +2 more
doaj  

Anorectal malformations

Journal of Indian Association of Pediatric Surgeons, 2015
Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases
Ajay Narayan Gangopadhyay, Vaibhav Pandey   +1 more
doaj   +1 more source

Long‐Term Clinical and Physiological Outcomes in Patients Treated Non‐Surgically for Anorectal Malformations

Neurogastroenterology &Motility, Volume 37, Issue 12, December 2025.
The long‐term anorectal outcomes of non‐surgically treated patients diagnosed with minor types of ARM seem optimal. Most of these patients experience no constipation or fecal incontinence; some experience constipation and relatively seldom fecal incontinence. Furthermore, most patients possess all the known fecal continence mechanisms.
Venla E. C. den Hollander, Steffie Gerritsen, Monika Trzpis, Paul M. A. Broens   +3 more
wiley   +1 more source

The Persistent Cloaca

National Board of Examinations Journal of Medical Sciences
Normally, at birth, females have separate perineal orifices for the urinary, reproductive and digestive tracts, while males have individual openings for the urogenital and digestive tracts.
Jayant Radhakrishnan, Rahul Gupta, Shumyle Alam, Anthony C. Chin   +3 more
doaj   +1 more source

Elevating and empowering reproductive futures: Pediatric and adolescent gynecology's specialized care across the globe

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 528-537, November 2025.
Abstract Pediatric and adolescent gynecology (PAG) is an expanding subspecialty of obstetrics and gynecology that addresses the reproductive health needs of girls and young women worldwide. In regions with limited subspecialist healthcare providers, general obstetricians, gynecologists, and nurse‐midwives, frontline healthcare providers provide ...
Nichole A. Tyson, Méabh Ní Bhuinneáin, Hema Divakar, Lauren Mauger, Judith Simms Cendan, Marisa Labovsky, FIGO Committee on Adolescent and Youth Health   +6 more
wiley   +1 more source

Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

JPGN Reports, Volume 6, Issue 4, Page 394-399, November 2025.
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee, Vikram Raghu, Jeffrey Rudolph, Feras Alissa, Vibha Sood   +4 more
wiley   +1 more source

Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9

Radiology Case Reports, 2020
: Currarino syndrome is a rare set of congenital anomalies that include partial sacral agenesis, anorectal anomalies, presacral mass, urogenital malformation, and fistula between pelvic structures.
Kristina Bevanda, Irma Memidžan, Ana Boban-Raguž   +2 more
doaj   +1 more source