Results 61 to 70 of about 11,948 (181)
Journal of Anatomy, Volume 249, Issue 3, Page 457-475, September 2026.We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
A dominant missense variant within LMBR1 related to equine polydactyly
Communications BiologyPolydactyly was recorded before 100 BCE and attracted widespread interest because of its relationship to limb health and ancestral traits in horses. However, the underlying reasons for the development of polydactyly remain unclear.
Yue Luan +7 more
doaj +1 more source
Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound
Journal of Ultrasound in Medicine, Volume 45, Issue 8, Page 1707-1714, August 2026.Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims +3 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
World Journal of Surgery, Volume 50, Issue 8, Page 2348-2359, August 2026.An estimated 140 million additional surgical procedures are required annually, yet access to safe, timely, and affordable surgical care remains limited, particularly in low‐ and middle‐income countries, where the poorest 2.2 billion people receive only 3.5% of procedures.
Sabina Rodriguez Velásquez +9 more
wiley +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly
Journal of Orthopaedic Surgery and ResearchBackground Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog ...
Run-Yan Wang +6 more
doaj +1 more source
Living Donor Liver Transplantation in Pediatric Situs Inversus: A Case Series and Systematic Review
Pediatric Transplantation, Volume 30, Issue 8, August 2026.ABSTRACT Liver transplantation (LT) in patients with situs inversus (S‐I) is rare and technically challenging. The literature on such cases, particularly in pediatric populations, remains limited. Here, we report the surgical considerations and outcomes of two pediatric recipients with situs inversus abdominalis who underwent liver transplantation for ...
Maria F. Fernandez +19 more
wiley +1 more source