Results 41 to 50 of about 22,661 (181)
Veterinary 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
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
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
Psychsocial consequences of high and intermediate imperforate anus
, 2005 Imperforate anus including lack of a normal anorectum is an uncommon malformation. The parents of children born with high and intermediate imperforate anus have to take a big responsibility for the follow-up treatment.
Margret Nisell (19492993)
core +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +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