Results 91 to 100 of about 248,769 (246)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad +10 more
wiley +1 more source
The challenge of measuring quality of life in children with Hirschsprung's disease or anorectal malformation [PDF]
, 2013 PURPOSE: The aim of the present study was to assess, after adaptation to French, the only specific quality of life (QoL) instrument for children with Hirschsprung\u27s disease or anorectal malformation, the Hirschsprung\u27s disease/Anorectal ...
C. Crétolle +4 more
core +3 more sources
Postoperative MRI for anorectal malformations
The Egyptian Journal of Radiology and Nuclear Medicine, 2018 Aim: To evaluate the role of MRI in detecting possible causes of incontinence in patients with anorectal malformations after the initial corrective surgery. Materials and methods: The study included 17 patients; age ranged from 1 to 18 years.
Yasmine T. Farghaly +4 more
doaj +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
FAECAL CONTINENCE AFTER RECONSTRUCTION OF ANORECTAL MALFORMATIONS
Slovenska pediatrija, 2020 The aim of the article is to review anorectal malformations. Babies born with anorectal anomalies need surgical treatment to be able to pass meconium and faeces. Surgical management can sometimes be achieved in a single stage.
Polona Studen Pauletič
doaj +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
A Terminal Colovesical Fistula in an Anorectal Malformation
Global Pediatric Health, 2020 Anorectal malformations are relatively common anomalies encountered in pediatric surgical practice. They are usually recognized at birth with absent anal canal or failure to pass meconium and hence can lead to life threatening bowel obstruction without ...
Jayalaxmi Shripati Aihole
doaj +1 more source
Delayed diagnosis of anorectal malformations in neonates
ANZ journal of surgery, 2019 Anorectal malformations (ARM) are common congenital abnormalities of the terminal hindgut. Ideally, ARM should be diagnosed at, or shortly following, birth by careful physical examination of the perineum.
P. Kruger +4 more
semanticscholar +1 more source
گزارش 11 مورد نتايج جراحی بیاختياری مدفوع به علت جابجايی رکتوم در کودکان مقعد بسته متعاقب عمل آنورکتوپلاستی [PDF]
, 2010 مينه و هدف: بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته، يکی از عوارض اين عمل در کودکان به شمار میآيد. جابجايی رکتوم و نقص عضله اسفنکتر از علل نسبتاً شايع بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته میباشد.
دلشاد, صلاح الدین
core
PLoS ONE, 2017 Objective Anorectal malformations (ARMs) are one of the commonest anomalies in neonates. Both laparoscopically assisted anorectal pull-through (LAARP) and posterior sagittal anorectoplasty (PSARP) can be used for the treatment of ARMs.
Yi-jiang Han +4 more
semanticscholar +1 more source