Hemifacial microsomia (otomandibular dysostosis)

Case contributed by Dr Dalia Ibrahim

Presentation

This patient has a history of facial asymmetry, right ear deformity and conductive hearing loss since birth.

Patient Data

Age: 13-year-old
Gender: Female

Small sized hypoplastic right mandibular condyle with foreshortened and underdeveloped right mandibular ramus and subsequent ipsilateral deviation of the chin to the same (right) side. Prominent right antegonial notch is also noted.

Right microtia, bony external auditory canal atresia, small sized middle ear cavity, small deformed and fused right middle ear ossicles and hypopnenumatized mastoid air cells. 

Case 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 the ear (aural), mouth (oral), and jaw (mandible) 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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Case information

rID: 47687
Case created: 29th Aug 2016
Last edited: 6th Feb 2017
System: Head & Neck
Inclusion in quiz mode: Included

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