3. An adolescent patient presents with marked facial asymmetry, present since birth. The auricular tissue on the left side is malformed; on the right side, low set. The right midface is underdeveloped with micrognathia and chin deviation, resulting in malocclusion.
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Diagnosis: Craniofacial microsomia, possibly caused by bleeding in the temporal area during gestation, describes a spectrum of cranial and facial abnormalities. After Down syndrome, it is the most common congenital syndrome, occurring in approximately 1 in 3,500 to 4,500 live births. In about two-thirds of cases, abnormalities differ from one side to the other.
These individuals typically demonstrate one-sided maxillary or mandibular hypoplasia, which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.
Abnormalities affecting one or both ears may range from preauricular tags to an underdeveloped or absent external ear or a closed or absent ear canal; these patients may experience hearing loss. Microphthalmia, occurring less frequently, may result in vision loss.
For more information, see Heike CL, Luquetti DV, Hing AV. Craniofacial microsomia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2016.