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Goldenhar syndrome: current perspectives

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Abstract

Background

Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques.

Data sources

Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia.

Results

The spectrum of GS abnormalities ranges from mild to severe ones and include patients with barely noticeable facial asymmetry to very pronounced facial defect with more or less severe abnormalities of internal organs and/or skeleton. It is characterized most commonly by impaired development of eyes, ears, lips, tongue, palate, mandible, maxilla, zygomatic and orbital structures and deformations of the teeth structures. Ethiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknowns about the syndrome which should be revealed.

Conclusions

Patients with GS due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians. All of this necessitate an individual approach to each single patient and involvement a team of specialists in treatment planning. It is a complex, long-lasting, multidisciplinary process and should be divided into stages, according to patient’s age, as well as the extent and severity of observed abnormalities. Neonatologists and pediatricians are involved in care of these patients from the onset.

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Authors and Affiliations

  1. Craniomaxillofacial and Oncological Surgery Clinic, Medical University of Lodz, 22 Kopcinskiego St, 90-153, Lodz, Poland

    Katarzyna Bogusiak & Aleksandra Puch

  2. Department of Dentistry, Medical University of Lodz, Lodz, Poland

    Piotr Arkuszewski

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  1. Katarzyna Bogusiak
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  2. Aleksandra Puch
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  3. Piotr Arkuszewski
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Correspondence to Katarzyna Bogusiak.

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Funding: None.

Ethical approval: No ethical approval is needed because the article is a review. The patient has given formal consent for photographs publication.

Competing interest: None declared.

Contributors: Bogusiak K contributed to study design and planning, preparation of manuscript, literature analysis and search. Puch A contributed to preparation of manuscript. Arkuszewski P contributed to study design and planning, and approved the final version to be published. Arkuszewski P is the guarantor.

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Bogusiak, K., Puch, A. & Arkuszewski, P. Goldenhar syndrome: current perspectives. World J Pediatr 13, 405–415 (2017). https://doi.org/10.1007/s12519-017-0048-z

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