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Case Reports
. 2010 Dec;18(6):646-9.
doi: 10.1590/s1678-77572010000600019.

Goldenhar syndrome: clinical features with orofacial emphasis

Hercílio Martelli Jr  1 , Roseli Teixeira de Miranda, Cassandro Moreira Fernandes, Paulo Rogério Ferreti Bonan, Lívia Máris Ribeiro Paranaíba, Edgard Graner, Ricardo D Coletta
Affiliations
Case Reports

Goldenhar syndrome: clinical features with orofacial emphasis

Hercílio Martelli Jr et al. J Appl Oral Sci. 2010 Dec.

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.

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Figures

Figure 2
Figure 2
Skeletal and facial phenotypes of patient #2 of this study. (A) Anterior standing photograph of the patient, demonstrating severe lordoscoliosis. (B) Frontal view of the face showing marked facial asymmetry, malocclusion, and eye involvement characterized by microphthalmia and eyelid coloboma of the left eye. (C) Lateral view of the face showing ear malformations, including microtia and preauricular tags (The parents signed informed consent authorizing the publication of these pictures)
Figure 3
Figure 3
A-B Presence of preauricular tags in patients #1 (A) (multiple accessory tags) and #4 (B) of this study. Preauricular tags are considered the most common malformation in GS, and the identification should lead to the search of other GS-associated abnormalities. (C) Bilateral epibulbar dermoid tumors affecting patient #3 of this study (The parents signed informed consent authorizing the publication of these pictures)
Figure 4
Figure 4
Panoramic radiograph of patient #6 of this study. The patient showed severe mandibular hypoplasia on the left side associated with hypoplastic temporomandibular joint and marked malocclusion
See this image and copyright information in PMC

References

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