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Case Report Plastic and Aesthetic Research

Craniofacial abnormalities in goldenhar

syndrome: a case report with review of the

literature

2
1
1
Ramesh Kumaresan , Balamanikanda Srinivasan , Mohan Narayanan ,
Navaneetha Cugati , Priyadarshini Karthikeyan 4
3
1 Departments of Oral and Maxillofacial Surgery , Faculty of Dentistry, AIMST University, 08100 Bedong, Kedah Darul Aman, Malaysia.
2 Department of Oral Medicine and Radiology, Vinayaka Mission’s Shankaracharyar Dental College, Salem 636308, Tamil Nadu, India.
3 Department of Pedodontic and Preventive Dentistry, Faculty of Dentistry, AIMST University, 08100 Bedong, Kedah Darul Aman, Malaysia.
4 Department of Oral Medicine and Radiology, Shree Balaji Dental College, Chennai 600100, Tamil Nadu, India.
Address for correspondence: Dr. Ramesh Kumaresan, Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, AIMST University,
08100 Bedong, Kedah Darul Aman, Malaysia. E-mail: rame1264@gmail.com

ABSTRACT
Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear
etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular
and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about
its features and because of its associated wide range of overlapping anomalies. Herewith, we present
a case of Goldenhar syndrome in a 21-year-old male, who presented all the classical signs of this rare
condition. This article also summarizes the characteristic features of patients with Goldenhar syndrome.

Key words:
Congenital abnormalities, eye abnormalities, Goldenhar syndrome, oculo-auriculo-vertebral spectrum

INTRODUCTION CASE REPORT

Goldenhar syndrome is a rare developmental anomaly The patient is a 21-year-old male who reported to
involving structures derived from first and second the Department of Oral Medicine and Radiology, with
branchial arches of the first pharyngeal pouch, the first complaints of an unaesthetic facial and dental appearance.
branchial cleft, and the primordial stapedial artery of the He was the product of his mother’s second pregnancy,
temporal bone. [1,2] Goldenhar syndrome and its variants, the first terminated by spontaneous abortion at about
also referred to as Goldenhar anomalad, occupy a central 2 months of gestation. Prenatal history revealed that the
position in the broad spectrum of overlapping anomalies mother suffered from frequent severe vaginal bleeding
related to the eyes, ears, face and vertebral column. [2] during the first trimester of her pregnancy. He was born at

In many cases, this syndrome goes unnoticed full term after a normal delivery with a bilateral complete
secondary to its associated wide range of overlapping cleft lip/palate and a congenital epibulbar dermoid of the
anomalies. This work reports a case of Goldenhar right eye. His parents were nonconsanguineous, and there
[3]
syndrome in a 21-year-old male, who presented all the was no relevant family history.
classical sign of this rare condition. The patient agreed to At 6 months of age, he underwent surgery for cleft lip
publish his facial pictures and signed the consent form.
repair, and cleft palate closure was performed at 18 months
Access this article online of age. He sustained multiple episodes of epilepsy until
Quick Response Code: the age of 6 years at which time he was diagnosed with
Website:
www.parjournal.net hydrocephalus, and a ventriculoperitoneal shunt was placed.
At the age 8, he underwent a minor surgical procedure for
excision of preauricular tags on the left side of his face.
DOI:
10.4103/2347-9264.143557 Physical examination at the age of 21 years was
remarkable for developmental and mental disability

108 Plast Aesthet Res || Vol 1 || Issue 3 || Dec 2014