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Thumb/hallux duplication and preaxial polydactyly type I.

I M Orioli1, E E Castilla

  • 1ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil. orioli@acd.ufrj.br

American Journal of Medical Genetics
|April 24, 1999
PubMed
Summary

This study investigated thumb and hallux duplication in newborns, finding distinct clinical and epidemiological patterns. These preaxial polydactyly types exhibit differences in laterality, prevalence, and risk factors, suggesting causal heterogeneity.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Epidemiology

Background:

  • Postaxial polydactyly of the hand and foot exhibit distinct characteristics.
  • Preaxial polydactyly, specifically thumb and hallux duplication, warrants similar investigation into limb-specific differences.

Purpose of the Study:

  • To determine if thumb and hallux duplication share distinct clinical and epidemiological features.
  • To analyze the prevalence, laterality, and associated risk factors for isolated thumb and hallux duplication.

Main Methods:

  • Retrospective analysis of 920 newborn infants with first digit duplication from the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) (1967-1995).
  • Subgroup analysis of isolated cases, including thumb duplication, hallux duplication, polysyndactyly, triphalangeal thumb, and combined duplications.

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  • Logistic regression analysis in a subseries of 405 cases with matched controls to assess risk factors like birth weight, gestational age, and first-trimester vaginal bleeding.

    • Main Results:

    • Thumb duplication (1.65/10,000) was more prevalent than hallux duplication (0.24/10,000).
    • Both groups showed a male excess and right-sided predominance; thumb duplication was more often unilateral.
    • Birth weight, gestational age, and borderline first-trimester vaginal bleeding influenced thumb duplication risk.
    • Familial cases suggested autosomal dominant inheritance with variable penetrance (9% for duplication, 70% for triphalangeal thumb/polysyndactyly).

    Conclusions:

    • Thumb and hallux duplication present with different epidemiological and clinical characteristics, indicating they are not a single entity.
    • Preaxial polydactyly type 1 is likely a causally heterogeneous group.
    • Further research into genetic and environmental factors is needed to understand the distinct etiologies.