Results 31 to 40 of about 22,661 (181)
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Case Reports in Genetics, 2012 Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay.
Rose H. Mende +3 more
doaj +1 more source
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
Surgical Strategy for Low Imperforate Anus in Girls -Cutback Anoplasty , Anal Transplantation or Limited Posterior Sagittal Anorectoplasty?- [PDF]
, 2003 From 1991 to 2001, we performed 5 re-operations with limited posterior sagittal anorectoplasty (PSARP) for low imperforate anus in girls who had anteriorly located anus after primary surgery.
Obatake, Masayuki +4 more
core
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
A Novel Surgical Approach for the Management of Cloacal Exstrophy with a Giant Omphalocele
European Journal of Pediatric Surgery Reports, 2021 Cloacal exstrophy is a rare malformation that presents as a lower midline abdominal wall defect which affects the gastrointestinal and genitourinary systems.
Caitlin A. Smith +4 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