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Published on: August 20, 2019
Bilateral preaxial polydactyly: a possible dominant inheritant
Minako Nishikawa1, Nagao Bitoh, Fumitaka Kikkawa
1Department of Obstetrics and Gynecology, Nagoya University School of Medicine, Tsurumai 65, Showa-ku, Nagoya 466-0064, Japan.
Insights
This study details families with preaxial polydactyly, a condition affecting hands and feet. Autosomal dominant inheritance is suggested, with satisfactory surgical outcomes beneficial for antenatal counseling.
Area of Science:
- Genetics
- Developmental Biology
- Orthopedic Surgery
Background:
- Preaxial polydactyly is a congenital limb malformation affecting the thumb or great toe.
- Understanding its genetic basis and inheritance patterns is crucial for genetic counseling.
- Surgical intervention is often necessary to correct functional and aesthetic impairments.
Observation:
- Families presenting with bilateral preaxial polydactyly in both hands and feet were identified.
- Pedigree analysis indicated a strong likelihood of autosomal dominant inheritance for this trait.
- Multiple associated congenital abnormalities were noted in affected individuals.
Findings:
- The inheritance pattern strongly suggests autosomal dominant transmission of preaxial polydactyly.
- Despite the presence of multiple congenital anomalies, surgical correction yielded favorable outcomes.
- The described cases provide valuable data for the medical community.
Implications:
- These findings contribute to the understanding of polydactyly genetics and inheritance.
- The successful surgical outcomes highlight the potential for effective management of this condition.
- This research is valuable for improving antenatal diagnosis and genetic counseling for affected families.
Abstract:
We described families with the preaxial polydactyly in bilateral hands and feet. An analysis of their pedigree strongly suggested that the polydactyly was controlled under the autosomal dominant inheritance. Despite multiple abnormalities, surgical outcomes were quite satisfactory. These cases would be useful for antenatal diagnoses and counseling.
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