Hindawi Publishing Corporation
Case Reports in Pediatrics
Volume 2013, Article ID 591350, 3 pages
http://dx.doi.org/10.1155/2013/591350
Case Report
A Case of Monozygotic Twins: The Value of Discordant
Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
K. N. Venkateshwara Prasad,
1
Arvind Rajha,
1
and Pradeep Kumar Vegi
2
1
Department of Paediatrics, Sri Devaraj Urs Medical College, Kolar, Karnataka 563101, India
2
Scientifc Research Laboratory-AHS, Department of Biochemistry, Sri Devaraj Urs Academy of Higher Education and Research,
Kolar, Karnataka 563101, India
Correspondence should be addressed to Pradeep Kumar Vegi; lifesresearch7@gmail.com
Received 21 June 2013; Accepted 18 July 2013
Academic Editors: N. Arslan, J. Kobr, M. Tzouf, and P. Visrutaratna
Copyright © 2013 K. N. Venkateshwara Prasad et al. Tis is an open access article distributed under the Creative Commons
Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is
properly cited.
Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malfo-
rmation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease
phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically.
We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia
of auricular pinna.
1. Introduction
Goldenhar syndrome is one of the rare craniofacial anomalies
with incidence of 1 : 3500 to 1 : 5600 births [1]. It is unilat-
eral in 70–80% of the cases [2] as oculoauriculo vertebral
(OAV) dysplasia or hemifacial microsomia (OMIM%164210)
or facioauriculo vertebral sequence [3]. Nevertheless, the
origin of the OAVS is unclear but states as complex and
heterogeneous in condition. Two pathophysiologic mecha-
nisms have been proposed for the OAVS: a reduced blood
fow and focal hemorrhage in the development region of the
frst and second branchial arches around 30 to 45 days of
pregnancy, in the blastogenesis period. Tese mechanisms
explain the outer ear abnormalities in this spectrum, as the
frst branchial arch gives rise to the anterior ear primordium
and the second branchial arch originates the posterior ear
primordium. Also, the outer ear canal derives from the dorsal
portion of the frst branchial clef[4]. Although external
ear anomalies have been described in OAVS patients—to
the point of being inclusion criteria—middle and especially
inner ear alterations have received little attention in the
literature [4, 5]. As the function of variability in clinical pre-
sentations, there are patients who are aficted with minimal
clinical manifestations, predominantly facial asymmetry and
dysplasia of the external ear [6]. Tis case demonstrates the
heterogeneity of spectrums with multifactorial features with
frequent alterations.
2. Case Report
A twenty-year-old 2nd gravida healthy mother delivered
female twins per vaginum dated on 19-11-2012, following 36
weeks of uneventful gestation in a rural tertiary care—R L
Jalappa Hospital, India. Amongst the twins, the frst female
twin baby was born by assisted breach delivery and cried soon
afer the birth with 1.84 kgs by weight, 47 cms in length, and
32 cms head circumference. On examination, the baby was
referred as late-preterm baby with an uneventful neonatal
period and normal examination. Te second female twin
baby born by vertex presentation and cried soon afer birth;
Apgar score at 1 minute was 8/10, weighing 1.94 kgs, 47 cms
by length, and 30 cms head circumference. Te placenta was
completely expelled, monochorionic and diamniotic.
On clinical examination, the 2nd twin baby showed the
following abnormal features as shown in Figures 1 and 2.
Facial features: hypoplasia of the right malar region, microg-
nathia, and hypertelorism. Ears: bilateral accessory tags, right