Purpose: Various combinations of central polydactyly, syndactyly, and cleft hand have been frequently observed in the individual hands and feet in the same patients. Little is known, however, about the early changes of abnormal induction of digital rays during limb development. To determine the early changes and process of formation of central polydactyly, syndactyly, and cleft hand, we experimentally induced these anomalies in the hind limbs of rat embryos and discussed the relationship among these abnormalities.
Methods: Inbred WKAH/Hkm rats were used for this study. Pregnant females were treated with busulfan at embryonic day (E) 11. The embryos were removed at E12 to E21 and stained with alcian blue and alizarin red S. The abnormal changes in the treated embryos' hind limbs were observed with a microscope.
Results: The edges of the footplates were irregular, and their growth was reduced at E14. By E15, abnormal clefts in the distal edge were present that disrupted the central digits (2 to 4) of the footplates. Because of these abnormal clefts, the digital rays were bent or branched, and the neighboring interdigital spaces were narrowed. These changes led to central polydactyly, syndactyly, and central deficiencies.
Conclusions: These findings show that central polydactyly, syndactyly, and central deficiencies have the same early morphological changes: abnormal clefts in the central part of the footplate.
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http://dx.doi.org/10.1016/j.jhsa.2007.06.017 | DOI Listing |
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
BMJ Case Rep
November 2024
General Medicine, Dr D Y Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India.
Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important phenotypic features of this syndrome. Most cases are identified in early childhood.
View Article and Find Full Text PDFJ Ultrasound Med
February 2025
Department of Ultrasound, Capital Medical University Beijing Obstetrics and Gynecology Hospital, Beijing, China.
J Orthop Case Rep
October 2024
Department of Orthopaedic, Inter Balkan Medical Center, Thessaloniki, Greece.
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