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J Appl Oral Sci. 2010 Dec;18(6):646-9.

Goldenhar syndrome: clinical features with orofacial emphasis.

Author information

1
Stomatology Clinic, Dental School, State University of Montes Claros, MG, Brazil.

Abstract

OBJECTIVES:

Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics.

MATERIAL AND METHODS:

The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented.

RESULTS:

All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients.

CONCLUSION:

Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

PMID:
21308299
PMCID:
PMC3881767
[Indexed for MEDLINE]
Free PMC Article

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