Hemifacial microsomia (otomandibular dysostosis)

Discussion:

Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. HFM results from the abnormal development of the first and second branchial arches hence it primarily affects the ear (aural), mouth (oral), and jaw (mandible) structures like temporomandibular joint, mandibular ramus and body, muscles of mastication, ear and sometimes facial nerve.

Goldenhar syndrome was described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present.

Differential diagnosis:

  • Pierre Robin syndrome: consists of micrognathia, glossoptosis, and cleft palate
  • Treacher Collins syndrome: hypoplasia of facial bones, especially malar and mandibular bones, malformation of external, middle, and internal ear, macrostomia, and high palatal arch
  • Parry-Romberg syndrome (facial hemiatrophy): progressive wasting of subcutaneous fat, sometimes accompanied by atrophy of skin, cartilage, bone and muscle
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