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Genetics of craniofacial malformations

Ariane Schmetz1, Jeanne Amiel2, Dagmar Wieczorek1

  • 1Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.

Seminars in Fetal & Neonatal Medicine
|September 25, 2021
PubMed

Insights

This review details key craniofacial malformation syndromes relevant to pediatricians and neonatologists, including craniosynostoses and rare conditions like Treacher Collins syndrome.

Area of Science:

  • Pediatrics
  • Genetics
  • Craniofacial Surgery

Background:

  • Craniofacial malformations encompass a wide spectrum of conditions, many of which are ultrarare.
  • Pediatricians and neonatologists require focused information on clinically significant syndromes.

Purpose of the Study:

  • To provide a detailed overview of select craniofacial malformation syndromes.
  • To discuss diagnostic and therapeutic options for these conditions.

Main Methods:

  • Literature review focusing on specific craniofacial malformation syndromes.
  • Synthesis of information on diagnosis and treatment.

Main Results:

  • Detailed descriptions of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence, and Treacher Collins syndrome.
  • Discussion of current diagnostic and therapeutic approaches.

Conclusions:

  • Understanding these specific syndromes is crucial for effective pediatric and neonatal care.
  • Further research and standardized management protocols are needed.

Keywords:
Craniofacial malformation syndromeCraniosynostosisGenetic counsellingGoldenhar syndromeMolecular testingOculo-auriculo-vertebral spectrumPierre Robin sequenceTreacher Collins syndrome

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