International Journal of Contemporary Pediatrics | May-June 2017 | Vol 4 | Issue 3 Page 1115
International Journal of Contemporary Pediatrics
Jaiswal A et al. Int J Contemp Pediatr. 2017 May;4(3):1115-1117
http://www.ijpediatrics.com pISSN 2349-3283 | eISSN 2349-3291
Case Report
A variant of Goldenhar syndrome
Akanksha Jaiswal, Thumjaa Annamalai*, Nirupama M., Shafath Ahmed M., Ramya V.
INTRODUCTION
Facioauriculovertebral syndrome was first recorded by
German physician, Carl Ferdinand Von Arlt.
1
Goldenhar
syndrome (oculoauriculovertebral dysplasia with
hemifacialmicrosomia) is a rare congenital anomaly
involving the first and second brachial arches.
2
It is also
known as the oculoauriculovertebral syndrome (OAVS)
because of the association of eye anomalies with or
without vertebral and ear anomalies.
3
Oculoauriculovertebral dysplasia, consisting of
preauricular appendages, fistulas and epibulbardermoids,
was first described in 1952 by the Swiss ophthalmologist
Maurice Goldenhar. Gorlin et al, included vertebral
anomalies as signs of the syndrome and suggested the
name Oculoauriculovertebral (OAV) dysplasia for this
condition. Smith used the term facio-auriculo-vertebral
sequence to include both Goldenhar syndrome and
hemifacialmicrosomia. The classic triad is mandibular
hypoplasia resulting in facial asymmetry, ear and/or eye
malformation and vertebral anomalies. Goldenhar’s
syndrome is often characterized by the combination of
anomalies including dermal epibulbar appendices and
malformation of the ears. We present a case of a variant
of Goldenhar Syndrome.
CASE REPORT
Figure 1: Right side facial macrosomia, right facial
asymmetry with deviation of angle of mouth to the
left side.
ABSTRACT
We report a case of 10 months old child with a variant of Goldenhar syndrome in the form of microtia of right ear,
microsomia of the right-side face, right facial nerve palsy with cardiac anomaly, renal anomaly and sensorineural
hearing loss on the right side which were rare associations prompted to report this case.
Keywords: Clinical manifestations, Goldenhar syndrome
Department of Pediatrics, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India
Received: 20 February 2017
Accepted: 27 March 2017
*Correspondence:
Dr. Thumjaa Annamalai,
E-mail: thumjaa@gmail.com
Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under
the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial
use, distribution, and reproduction in any medium, provided the original work is properly cited.
DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20171740