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Cancer risk in individuals with polydactyly: a Swedish population-based cohort study.
Br J Cancer
September 2024
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Article Synopsis
- - Polydactyly, which refers to having extra fingers or toes, has been linked to some cancer predisposition syndromes, but the actual cancer risk in people with polydactyly is not well understood.
- - A study analyzing data from over 6,600 individuals in Sweden found that those with polydactyly, particularly polydactyly+ (which includes additional birth defects), have a significantly increased risk of developing childhood and young adult cancers, especially kidney cancer and leukemia.
- - The findings revealed that males with polydactyly+ had the highest cancer risk, and this association persisted even after accounting for other known cancer predisposition syndromes.
The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.
Genes (Basel)
June 2024
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia.
The retinal features of Bardet-Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography (ERG), family pedigrees, and genotypes.
View Article and Find Full Text PDFA novel frameshift mutation in a Chinese pedigree with polydactyly: A case report.
Heliyon
April 2024
Department of Orthopaedic Surgery, Jinhua Municipal Central Hospital, Jinhua, Zhejiang Province, 321000, China.
Background: gene mutations can result in various forms of polysyndactyly, such as Greig cephalopolysyndactyly syndrome (GCPS, MIM: #175700), Pallister-Hall syndrome (PHS, MIM: #146510), and isolated polydactyly (IPD, MIM: #174200, #174700). Reports on IPD-associated mutations are rare. In this study, a novel mutation was identified in a Chinese family with IPD.
View Article and Find Full Text PDFRevision of residual deformities after primary surgery for Wassel-Flatt IV-D thumb duplication using a microsurgical free lateral great toe flap.
J Hand Surg Eur Vol
September 2024
Department of Pediatric Orthopaedics, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
We report the application and results of skin defect coverage using the free lateral great toe flap in revision surgery for residual postoperative deformities in Wassel-Flatt type IV-D thumb duplications. This retrospective study included five patients treated between June 2020 and September 2021 to correct angular deformity and repair the secondary skin defect. All the flaps survived.
View Article and Find Full Text PDFLong-term donor site outcome after second toe transfer for congenital hand differences.
J Hand Surg Eur Vol
July 2024
Department of Hand and Microsurgery, Tampere University Hospital, Tampere, Finland.
This study evaluates the long-term donor site outcomes after second toe transfers for congenital hand differences performed during childhood. In total, 25 toe transfers in 18 patients were followed up for a mean period of 17.4 years.
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