Results 71 to 80 of about 9,855 (201)
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
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +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
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula
Journal of Indian Association of Pediatric Surgeons, 2009 The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation.
Thakur Ashokanand +3 more
doaj
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders [PDF]
, 2009 BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other ...
Chitayat, D +3 more
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Split-appendix technique: Alternative urinary diversion for pediatric complete incontinence [PDF]
, 2017 We report our series of selected patients with complete incontinence in whom the appendix was divided and utilized for creating two continent catheterizable stomas.
Angotti, Rossella +5 more
core +3 more sources
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 +4 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
Studies of Marine Bryozoa. IX, Phylactellipora [PDF]
, 1957 Author Institution: Department of Biology, College of New Rochelle, New Rochelle, New ...
Rogick, Mary Dora
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