Results 31 to 40 of about 7,363 (165)
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
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
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
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
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
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
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

