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Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.

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Article Synopsis
  • Radial deviation of the interphalangeal joint can be a complication of treating Wassel type IV-D preaxial polydactyly, leading to issues with skin tension on the radial side.
  • The study involved eight patients who underwent surgery using a fascial flap to reconstruct the radial skin defect, with significant improvements in functional scores observed post-operation.
  • Results showed all flaps survived without complications, and there was a notable increase in both Tada and visual analog scale scores, indicating successful repair of the radial deviation.
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Radial longitudinal deficiency (RLD) is a multidimensional congenital hand difference encompassing skeletal, musculotendinous, and joint components. Managing RLD remains challenging, with numerous surgical procedures over the past century failing to achieve a stable, mobile, growing wrist without recurrence of the deformity. This review investigates new therapeutic approaches for RLD, delving into genetic, embryological, and histological aspects, including proximal muscle involvement and causes of recurrence.

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Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.

Hum Genet

December 2024

Department of Pediatric Surgery and Laboratory of Pediatric Surgery, West China Hospital/West China School of Medicine, Sichuan University, Chengdu, 610041, China.

Article Synopsis
  • Preaxial polydactyly (PPD) is a genetic limb malformation linked to variants in the ZRS and preZRS regions, and this study analyzed 102 patients to explore these genetic variations.
  • Researchers identified six point variants, including four novel likely pathogenic variants, and found that 66.67% of patients had duplications in the ZRS region, suggesting a common mechanism for these genetic issues.
  • The study emphasizes the importance of including various genetic variants in screenings, potentially improving detection rates of pathogenic variants and aiding in the prevention of limb developmental defects.
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