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Related Experiment Videos

[Apert syndrome: a reported observation].

S Dihaj1, A Abada, T Baha Ali

  • 1Service d'Ophtalmologie pédiatrique, Hôpital 20 Août, Casablanca, Maroc. said.dihaj1@caramail.com

Bulletin De La Societe Belge D'Ophtalmologie
|April 27, 2005
PubMed
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Apert syndrome, a rare craniofacial synostosis, presents with complex malformations. This case highlights the severe respiratory and cardiac complications, emphasizing diagnostic and therapeutic challenges in infants.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Case Reports

Background:

  • Apert syndrome is a rare craniofacial synostosis characterized by craniosynostosis and syndactyly.
  • It typically follows an autosomal dominant inheritance pattern, though sporadic cases occur.
  • The syndrome involves significant craniofacial and limb malformations.

Observation:

  • A 2-month-old infant presented with respiratory distress and polymalformative syndrome.
  • Clinical findings included brachycephaly, bilateral exorbitism, syndactyly of hands and feet, and anal fistula.
  • Echocardiography revealed an interventricular communication, suggesting Apert syndrome.

Findings:

  • The infant exhibited multiple congenital anomalies consistent with Apert syndrome.

Related Experiment Videos

  • Cardiovascular malformation (interventricular communication) was identified.
  • The infant experienced a fatal respiratory infection despite intensive care.

    • Implications:

    • This case underscores the severe clinical manifestations and potential complications of Apert syndrome in infancy.
    • It highlights the challenges in managing respiratory and cardiac issues associated with this condition.
    • The observation emphasizes the need for early diagnosis and multidisciplinary care for affected infants.