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Distinguishing Goldenhar Syndrome from Craniofacial Microsomia

Tuin, Jorien MD*; Tahiri, Youssef MD, MSc; Paliga, James T. MD*; Taylor, Jesse A. MD*; Bartlett, Scott P. MD, FACS*

doi: 10.1097/SCS.0000000000002017
Original Articles
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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.

*Division of Plastic Surgery, Children's Hospital of Philadelphia, The Perelman School of Medicine at the University of Pennsylvania, PA

Division of Plastic Surgery, Riley Hospital for Children, Indiana University, IN.

Address correspondence and reprint requests to Scott P. Bartlett, MD, FACS, The Perelman School of Medicine at the University of Pennsylvania, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd. 9th Floor, Philadelphia, PA 19104; E-mail: Bartletts@email.chop.edu

Received 31 October, 2014

Accepted 28 June, 2015

This study was reviewed and approved by the Institutional Review Board of the Children's Hospital of Philadelphia.

The authors report no conflicts of interest.

© 2015 by Mutaz B. Habal, MD.