Results 31 to 40 of about 7,363 (177)
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American 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
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
Acta 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
Molecular 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
Postoperative Megarectum in an Adult Patient with Imperforate Anus and Rectourethral Fistula
Case Reports in Gastrointestinal Medicine, 2015 This report presents a surgical case of postoperative megarectum in an adult patient with imperforate anus/anorectal malformations. A 71-year-old Japanese male presented with a mass in the lower abdomen which was 15 × 12 × 8 cm in diameter, edema in the ...
Yoshifumi Nakayama +5 more
doaj +1 more source
Townes-Brocks syndrome with overlapping features of hemifacial microsomia
Journal 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