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Craniofacial Microsomia.

Craig Birgfeld1, Carrie Heike2

  • 1Pediatric Plastic and Craniofacial Surgery, Seattle Children's Hospital, 4800 Sand Point Way, M/S OB.9.520, PO Box 5371, Seattle, WA 98105, USA.

Clinics in Plastic Surgery
|March 11, 2019
PubMed
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Craniofacial microsomia, a condition affecting facial development from embryonic pharyngeal arches, presents with varied symptoms impacting the jaw, ear, and facial nerves. This preferred term encompasses several related diagnoses, highlighting the need for clear diagnostic criteria.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Otolaryngology

Background:

  • Patients with underdevelopment of facial features from the first and second pharyngeal arches are diagnosed using various terms.
  • Craniofacial microsomia (CFM) is the currently preferred diagnostic term for these conditions.
  • Existing terminology includes first and second branchial arch syndrome, otomandibular dysostosis, and oculoauriculovertebral syndrome.

Purpose of the Study:

  • To clarify the diagnostic landscape for conditions affecting facial development originating from the embryonic first and second pharyngeal arches.
  • To highlight the clinical significance and impact of craniofacial microsomia.

Main Methods:

  • Review of clinical terminology and diagnostic practices for first and second pharyngeal arch developmental anomalies.
Keywords:
Craniofacial microsomiaDistraction osteogenesisGoldenhar syndromeHemifacial microsomiaOculoauriculovertebral syndromeOrthognathic surgeryPhenotypic assessment tool – craniofacial microsomia (PAT-CFM)Virtual surgical planning

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  • Analysis of the common clinical features associated with craniofacial microsomia.

    • Main Results:

    • Craniofacial microsomia has emerged as the preferred diagnostic term, unifying several previously distinct labels.
    • While specific diagnostic criteria for CFM are lacking, affected individuals commonly exhibit underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve.
    • These developmental anomalies can lead to significant functional impairments.

    Conclusions:

    • Craniofacial microsomia is a unifying term for a spectrum of developmental anomalies affecting the first and second pharyngeal arches.
    • The underdevelopment of facial structures in CFM can result in feeding difficulties, airway compromise, hearing loss, altered facial movement, and aesthetic concerns.
    • Further research is needed to establish clear diagnostic criteria for craniofacial microsomia.