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[Complex craniofacial synostoses].

Torstein R Meling1, Karen Helene Ørstavik, Arvid Heiberg

  • 1Nevrokirurgisk avdeling, Rikshospitalet, 0027 Oslo. torsteinrmeling@mailcity.com

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|May 8, 2004
PubMed
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Complex craniofacial synostosis involves premature suture closure, affecting skull shape and facial features. Genetic testing is crucial for accurate diagnosis of these rare disorders.

Area of Science:

  • Genetics
  • Pediatrics
  • Craniofacial Surgery

Context:

  • Complex craniofacial synostosis represents a group of rare genetic disorders.
  • Characterized by premature fusion of craniofacial sutures, impacting skull and facial development.
  • These conditions can also involve limb abnormalities.

Purpose:

  • To review syndromal craniofacial synostosis based on existing literature.
  • To elucidate the phenotypic similarities and consequences of premature suture closure.
  • To highlight diagnostic challenges and the role of genetic testing.

Summary:

  • Premature synostosis of cranial vault sutures leads to diverse skull deformities.
  • Skull base and facial suture fusion cause characteristic facial abnormalities like shallow orbits and midface retrusion.

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  • Phenotypic overlap exists among complex craniofacial syndromes.

    • Impact:

    • Accurate diagnosis can be challenging through clinical examination alone.
    • Common syndromes are linked to fibroblast growth-factor receptor gene mutations.
    • Referral for genetic testing is recommended for suspected cases in children.