Results 31 to 40 of about 7,363 (165)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus

open access: yesCase Reports in Clinical Practice
Scimitar 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

IMPERFORATE ANUS.

open access: yesThe Lancet, 1890
n ...
openaire   +1 more source

Management of congenital female genital tract anomalies related to primary amenorrhea and/or cyclic abdominal pain: A retrospective cohort study

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 9, Page 1810-1822, September 2026.
Overall, 21 patients with uterine, cervical, and vaginal aplasia were treated successfully with neovagina formation. In 6 out of 8 patients, with obstructed uterine cavity, anastomosis was successful; one underwent hysterectomy and one elective hemi‐hysterectomy.
Grigoris F. Grimbizis   +5 more
wiley   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu   +5 more
wiley   +1 more source

Townes-Brocks syndrome with overlapping features of hemifacial microsomia

open access: yesJournal of Orofacial Sciences, 2013
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations.
Yadavalli Guruprasad   +1 more
doaj   +1 more source

Multiple congenital anomalies in a neonatal goat kid: Atresia ani, rectovaginal fistula, renal fusion, ectopic ureter and sinus of Valsalva aneurysm

open access: yesVeterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract A 2‐week‐old female Anglo‐Nubian goat kid was presented with rectal malformation and signs of lower urinary and gastrointestinal dysfunction. Postmortem examination revealed multiple congenital anomalies including atresia ani with a rectovaginal fistula, right‐sided extramural ectopic ureter, renal fusion with unilateral severe pallor and ...
Caro Wilson   +3 more
wiley   +1 more source

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