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Finger duplication in Apert's syndrome

P J Anderson1, R Hall, P J Smith

  • 1Department of Plastic Surgery, Great Ormond Street Hospital for Children, London, UK.

Journal of Hand Surgery (Edinburgh, Scotland)
|October 1, 1996
PubMed
Summary

This study presents three cases of unilateral little finger duplication in children with Apert syndrome. These findings suggest that Apert syndrome hand malformations may not always affect both hands equally.

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Area of Science:

  • Pediatric Orthopedics
  • Clinical Genetics
  • Developmental Biology

Background:

  • Apert syndrome is a genetic disorder characterized by premature fusion of skull bones and distinctive facial features.
  • Hand and foot malformations, including syndactyly (fusion of digits), are common in Apert syndrome.
  • Symmetry of limb malformations in Apert syndrome is often assumed but not always documented.

Observation:

  • Three pediatric patients with Apert syndrome presented with unilateral duplication of the fifth digit (little finger).
  • This duplication occurred on only one hand in each case.
  • No other significant upper limb malformations were noted in these specific cases.

Findings:

  • The observed cases demonstrate a pattern of asymmetry in digital malformations within Apert syndrome.
  • Unilateral duplication of the little finger is a previously underreported manifestation.
  • These findings challenge the assumption of consistent bilateral symmetry in Apert hand anomalies.

Implications:

  • Clinicians should consider the possibility of asymmetric hand involvement in Apert syndrome diagnosis and management.
  • Further research is needed to understand the genetic and developmental factors influencing asymmetry in Apert syndrome.
  • Accurate documentation of limb malformation symmetry is crucial for understanding the spectrum of Apert syndrome phenotypes.

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