Goldenhar syndrome: clinical features with orofacial emphasis

Abstract

ObjectivesGoldenhar 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 methodsThe 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. ResultsAll 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. ConclusionOur 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.

Goldenhar Syndrome

“…Goldenhar syndrome may be associated with cardiovascular, pulmonary, renal, genital, central nervous system and gastrointestinal abnormalities [8,11,17,22,23]. We did not identify visceral malformations in our patient.…”

“…Oral manifestations of Goldenhar syndrome are numerous and range from malocclusion to complete absence of the mandibular branch and temporomandibular joint [17,18]. In the literature, there are case reports of Goldenhar syndrome associated with such oral malformations as micrognathia, macrostomia, cleft lip, cleft palate and fissured tongue [1,2,4,15,19].…”

“…Facial asymmetry of patients with Goldenhar syndrome is caused by the incomplete development of malar bones, jaws, and temporomandibular joint [17,19]. This abnormality is associated with hypoplasia of facial muscles and is reported in 65-75% of cases [6,15,20].…”

“…The vertebral abnormalities associated with Goldenhar syndrome are supernumerary vertebrae, hemivertebrae, and fused vertebrae [14,17,19,21]. These abnormalities occur more commonly in the cervical spine.…”

“…Intranatal diagnosis can be confirmed ultrasonographically by the detection of abnormalities. Sometimes the diagnosis of Goldenhar syndrome can be difficult and or tardy [14,17]. Thus, Martelli Junior et al (2010) [17] reported a mean age at the time of diagnosis of 7.15 years (ranges 3 months to 12 years).…”