Distinguishing Goldenhar Syndrome from Craniofacial Microsomia

Abstract

Goldenhar syndrome is characterized by the typical features of craniofacial microsomia (CFM) with the addition of epibulbar dermoids and vertebral anomalies. The aim of this study is to examine the objective differences between patients carrying a diagnosis of Goldenhar syndrome to those diagnosed with CFM. Thus, we performed an Institutional Review Board-approved retrospective chart review on all patients who presented with a diagnosis of CFM or Goldenhar syndrome from January 1990 to December 2012. Demographic, diagnosis, OMENS+ classification, accompanying diagnoses, and radiographic data were collected. For subjective analysis, subgroups were designed based on the diagnosis Goldenhar syndrome or CFM per history. For objective analysis, subgroups were designed based on the presence of epibulbar dermoids and/or vertebral anomalies. The cohorts were compared with respect to associated medical abnormalities and severity of CFM features. One hundred thirty eight patients met inclusion criteria. Epibulbar dermoids and vertebral anomalies were seen in 17% and 34% of the patients, respectively. Only 10 patients (7.2%) had both epibulbar dermoids and vertebral anomalies. The subjective "Goldenhar" group (N = 44, 32%) was found to have a higher percentage of bilaterally affected patients (P = 0.001), a more severe mandibular deformity (P = <0.001), a more severe soft tissue deformity (P = 0.01), and a higher incidence of macrostomia (P = 0.003). In the objective subgroup analysis, the only significant difference was found in the degree of soft tissue deficiency (P = 0.049). The diagnostic criteria of Goldenhar syndrome remain unclear, thereby making clinical use of the term "Goldenhar" inconsequential. Goldenhar syndrome is over diagnosed subjectively in patients who show more severe CFM features.

Ocular and adnexal anomalies in craniofacial microsomia: a systematic review

“…Of the 25 records included, 14 were retrospective studies 15,16,[18][19][20][21][22][23][24][25][26][27][28][29] , one was a prospective study 30 , and 10 were case series [31][32][33][34][35][36][37][38][39][40] . The prospective study also had a retrospective component, in which patient charts were reviewed for additional information.…”

“…However, Vento et al refuted GS/OAVS as a subtype of CFM, as they found no association between these anomalies 15 . Tuin et al concluded that use of the term GS is inconsequential, as not all GS patients meet the diagnostic criteria 16 . Also, Caron et al recently concluded that there are no phenotypically distinct groups in the CFM spectrum 17 .…”

Síndrome de Goldenhar y microsomía hemifacial. Revisión de la literatura

“…Las personas con MHF y dermoides epibulbares se dice que tienen síndrome de Goldenhar (SG) o displasia oculoauriculo vertebral. La triada patognomónica del SG incluye MHF, dermo-lipoma y anormalidades esqueletales vertebrales 1,3 .…”

“…También, los pacientes considerados subjetivamente con diagnóstico de SG tenían una mandíbula más severamente afectada, deformación del tejido blando y eran más propensos a tener compromiso bilateral y macrostomia. Sin embargo, al examinar más apropiadamente las características objetivas del SG, el grado de severidad de casi todas las deformaciones crá-neo faciales de estos pacientes no eran significativamente diferentes 3 .…”

Goldenhar Syndrome in a pediatric patient: a case report and review of literature

“…It is considered a variant of craniofacial (hemifacial) microsomia (CFM), a group of congenital malformations that occur during the embryonic development of the first and second branchial arches, which give rise to the ear, face and eyelids [3][4][5] . Therefore, patients present with the classic signs of CFM, such as unilateral asymmetric incomplete facial development, which may affect the mandible, maxilla, ears, soft tissues and nerves, as well as epibulbar dermoids and vertebral anomalies [6][7] .…”