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Related Experiment Videos

Apert syndrome with partial preaxial polydactyly.

G Lefort1, P Sarda, C Humeau

  • 1Laboratoire de Cytogénétique, C.H.R.U., Montpellier, France.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1992
PubMed
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Apert syndrome, a rare genetic disorder, typically involves craniosynostosis and limb abnormalities. This case highlights an atypical presentation with polydactyly, reinforcing Apert syndrome diagnosis due to a new mutation.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Dysmorphology

Background:

  • Acrocephalosyndactyly type I, or Apert syndrome, is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis), distinctive facial features, and syndactyly (fusion) of the hands and feet.
  • Polydactyly, specifically of the toes, is an uncommon finding in Apert syndrome and can complicate differential diagnosis, sometimes necessitating consideration of Carpenter syndrome.

Observation:

  • This report details a unique case of Apert syndrome exhibiting atypical features, including partial preaxial polydactyly of the toes.
  • The patient presented with characteristics consistent with Acrocephalosyndactyly type I, despite the unusual presence of polydactyly.

Findings:

  • A diagnosis of Apert syndrome was confirmed, attributed to a de novo (new) mutation.

Related Experiment Videos

  • The presence of partial preaxial polydactyly in this case represents an atypical manifestation of Apert syndrome.

    • Implications:

    • This case expands the known phenotypic spectrum of Apert syndrome, emphasizing the importance of genetic analysis for accurate diagnosis even with unusual presentations.
    • Understanding new mutations in Apert syndrome is crucial for genetic counseling, as the recurrence risk for families is generally very low.