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Related Experiment Videos

[Apert's syndrome: a case report].

C Doutetien1, A Laleye, S Tchabi

  • 1Service d'Ophtalmologie, CNHU, BP 386 Cotonou, Bénin.

Journal Francais D'Ophtalmologie
|September 18, 2003
PubMed
Summary
This summary is machine-generated.

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Apert syndrome, a rare craniofacial synostosis, presents with distinct hand and foot syndactyly. This case highlights a specific FGFR2 gene mutation and associated ocular, neurological, and hemoglobinopathy complications.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Context:

  • Apert syndrome is a rare craniofacial synostosis characterized by craniosynostosis and syndactyly.
  • It belongs to the group of craniofacial synostoses, distinct from Crouzon syndrome due to specific syndactyly.
  • Genetic mutations, particularly in FGFR2, are implicated in its pathogenesis.

Purpose:

  • To report a case of Apert syndrome in a 15-year-old girl.
  • To confirm the molecular diagnosis through genetic analysis.
  • To illustrate the clinical manifestations and complications of untreated Apert syndrome.

Summary:

  • A 15-year-old female presented with classic Apert syndrome features, including craniofacial dysmorphia and syndactyly.
  • Genetic testing revealed the characteristic Ser 252 Trp mutation in the FGFR2 gene.

Related Experiment Videos

  • The case also presented with unusual findings of a normal karyotype, no parental consanguinity, and co-existing hemoglobinopathy (Hb AS).

    • Impact:

    • This case underscores the importance of molecular diagnosis in Apert syndrome.
    • It highlights the potential for severe ocular and neurological complications if left untreated.
    • The co-occurrence of hemoglobinopathy adds a unique dimension to the clinical presentation.