Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options

SAGE Open Med Case Rep. 2024 Sep 18:12:2050313X241282215. doi: 10.1177/2050313X241282215. eCollection 2024.

Abstract

This case report examines a newborn with bilateral postaxial polydactyly type B, delivered by a 42-year-old mother with a history of third-degree consanguinity. The mother, having had no prior live births and one abortion, presented at 39 weeks gestation. The absence of prenatal care is noted, with its potential impact on prenatal diagnosis not assessed. The newborn, a healthy girl, weighed 3400 g with an Apgar score of 9/10. Radiographic and physical examination revealed vestigial sixth digits with rudimentary phalanges, influencing the surgical approach. This report underscores the importance of genetic counseling in cases of consanguinity and illustrates the multidisciplinary strategy necessary for managing polydactyly, from surgical considerations to genetic evaluation.

Keywords: Polydactyly; autosomal dominant inheritance; congenital limb anomalies; non-syndromic polydactyly; postaxial polydactyly.

Publication types

  • Case Reports