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Sporadic familial polydactyly.
O Karaaslan1, Y O Tiftikcioglu, H M Aksoy
1Plastic and Reconstructive Surgery Clinic, Ankara Training and Research Hospital, Ankara, Turkey.
Genetic Counseling (Geneva, Switzerland)
|January 24, 2004
Summary
Polydactyly, a common hand deformity, can be inherited. This study details a family with multiple children affected by polydactyly, likely due to a single genetic mutation, despite no prior family history.
Area of Science:
- Medical Genetics
- Developmental Biology
- Orthopedics
Background:
- Polydactyly is a frequent congenital hand anomaly, presenting as an isolated condition, part of broader limb malformations, or within a syndrome.
- It exhibits varied inheritance patterns, predominantly autosomal dominant, but can also occur sporadically.
Observation:
- A family is presented where three of four siblings in the latest generation manifest polydactyly.
- The affected children display diverse polydactyly phenotypes.
- No syndromic associations were identified in the affected individuals.
Findings:
- The diverse polydactyly phenotypes in the siblings are likely attributed to a single shared mutation inherited from a parent.
- The occurrence in this family suggests a potential de novo mutation or variable expressivity of an autosomal dominant trait.
Implications:
- This case highlights the importance of genetic counseling and evaluation for polydactyly, even without a clear family history.
- Understanding the genetic basis and phenotypic variability is crucial for accurate diagnosis and management of polydactyly.
- Further research into the specific mutation and its variable expression can inform treatment strategies for congenital hand differences.