Results 41 to 50 of about 7,333 (175)
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, EarlyView.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
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
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +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
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source