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Updated: Jul 15, 2026
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[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
Summary
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.
- 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.
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