4.6 Review

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Related references

Note: Only part of the references are listed.
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Summary: This study evaluated the medium-long term outcomes of surgical treatment for toe syndactyly and identified the risk factors for recurrence, complications, and poor clinical outcomes. The study found that surgery performed after the age of two increased the risk of recurrence, and African ethnicity was a risk factor for keloid formation. The study also found that only half of the patients with simple syndactyly were satisfied with the surgery outcomes.

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Summary: This study identified two nonframeshifting mutations of HOXD13 polyalanine repeat location in two Chinese families with postaxial polydactyly or postaxial syndactyly through whole exome sequencing. These mutations led to truncation or expansion of Poly-Ala repeats of HOXD13 proteins and resulted in conformational changes according to three-dimensional structural analysis. The findings provide new insights into genetic counseling and clinical management.

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Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

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