Results 31 to 40 of about 7,007 (150)
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
Case Reports in Clinical PracticeScimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC).
Maziar Karamnejad +5 more
doaj +1 more source
The hidden mortality of imperforate anus
African Journal of Paediatric Surgery, 2013 Background: Anorectal malformations (ARMs) affect 1 in 4000-5000 births and are a big challenge in western countries. However, little is known about ARMs in Africa.
Nikki Beudeker +3 more
doaj +1 more source
The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus
The Turkish Journal of Pediatrics, 1999 A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the ...
Hüseyin Dindar +4 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 1, Page 21-29, January 2026.ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf +7 more
wiley +1 more source
Congenital pouch colon in a male neonate
Journal of Pediatric Surgery Case Reports, 2023 Introduction: Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally ...
Amrit Bhusal +2 more
doaj +1 more source
Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul +5 more
wiley +1 more source
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 +2 more
wiley +1 more source
Associated malformations in newborns with imperforate anus in Gorgan, Iran (2006-10)
مجله دانشگاه علوم پزشکی گرگان, 2014 Background and Objective: Imperforate anus is a common anorectal malformation, which is associated with other anomalies. This study was done to determine the associated malformations in newborns with imperforate anus in northern Iran.
Mirfazeli A +4 more
doaj
Taiwanese Journal of Obstetrics & Gynecology, 2013 Objective: To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation. Case report: A 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in ...
Chih-Ping Chen +3 more
doaj +1 more source