Results 81 to 90 of about 7,022 (211)
Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]
, 2016 Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F +6 more
core +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
VY anoplasty for ectropion of anal mucosa in an adult with anorectal malformation
Journal of Pediatric Surgery Case Reports, 2019 Ectropion of anal mucosa (AME) is a possible complication following anorectal surgery and it is often cause of symptoms such as soiling, pain and bleeding affecting the patients' quality of life.
Enrico La Pergola +4 more
doaj +1 more source
Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
, 2016 Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D. +11 more
core +1 more source
Primary Repair of a Jejunal Atresia With Christmas Tree Deformity in a Preterm Infant
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Although uncommon in the general population, jejunoileal atresia (JIA) is a common cause of intestinal obstruction in infants. This congenital anomaly may cause a substantial reduction in intestinal length, enhancing the likelihood of short bowel syndrome and intestinal failure.
Dennis Machaku +5 more
wiley +1 more source
Medical Journal of Dr. D.Y. Patil University, 2017 Anterior sacral meningocele (ASM) and neural tube defect are well-known clinical entity. Hirschsprung's disease is rarely associated with ASM, but the association with anorectal malformation is common.
Md Hadiuzzaman +3 more
doaj +1 more source
Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 2, Page 425-433, February 2026.Abstract Objectives To assess whether low‐volume transanal irrigation (L‐TAI) is effective as add‐on to oral laxative therapy for children with functional constipation and retentive fecal incontinence. Methods Two‐arm randomized controlled trial, including children aged 4–14 suffering from retentive fecal incontinence.
Signe Øbo Larsen +7 more
wiley +1 more source
Rare association of prune belly syndrome with pouch colon
Pediatric Health, Medicine and Therapeutics, 2011 M Ragavan1, U Haripriya1, PV Pradeep1, J Sarvavinothini21Department of Endocrine Surgery, 2Department of Anaesthesia, Narayana Medical College and Superspeciality Hospital, Nellore, Andhra Pradesh, IndiaAbstract: Prune belly syndrome is a triad ...
M Ragavan +3 more
doaj
Risks associated with obesity in pregnancy, for the mother and baby: a systematic review of reviews [PDF]
, 2015 Maternal obesity is linked with adverse outcomes for mothers and babies. To get an overview of risks related to obesity in pregnant women, a systematic review of reviews was conducted.
Begley, C. +4 more
core +1 more source