Download Goldenhar`s Syndrome Associated with Multiple

Case Report
Goldenhar’s Syndrome Associated with
Multiple Congenital Abnormalities
by Suleyman Bayraktar,a Seher Tabanli Bayraktar,b Emel Ataoglu,a Ayse Ayaz,a and Murat Elevlia
a
Haseki Research and Education Hospital, Istanbul, Turkey; bGokceada General Hospital, Turkey
Summary
Goldenhar’s syndrome is characterized by a combination of dermal epibulbar cysts, auricular
appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar’s
syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this
syndrome is 5–58 per cent. Although the etiology of this disease is not fully understood, autosomal
recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio
for the Goldenhar’s syndrome is 2:1. A 72-day-old Goldenhar’s syndrome case is reported who presented
with multiple congenital anomalies.
Introduction
The first case of Goldenhar epibulbar dermoid
cysts and congenital malformations, such as
preauricular skin accessories, was reported in 1952.1
Then, Gorlin and Pindborg2 included vertebral
anomalies in these congenital malformations. Thus,
Goldenhar syndrome is defined as: (a) eye anomalies
(epibulbar dermoid and lipodermoid formations,
one-sided microphthalmos, coloboma), (b) ear
anomalies (small ear, dropped ear, ear appendices
and/or fistulas), and (c) vertebral anomalies.3
Moreover, congenital heart anomalies, split lips
and/or palate, facial asymmetry, teeth anomalies,
hearing defects, mental retardation, and lymphomas
in corpus callosum may also accompany the previous
symptoms.4,5 The average incidence ratio of
Goldenhar’s syndrome is estimated to be 1/5600 in
live-born patients.6 The disease is seen as sporadic
and its etiology is not fully understood. Although
some studies have been conducted on different
heredity effects (autosomal recessive, autosomal
dominant), no clear evidence has been provided.7–9
It is presumed that the development defect is
dependent on the first and second brachial arch, the
disease is seen more often in male patients, and the
recurrence risk is about 3–6 per cent.10
Since the patients with Goldenhar syndrome
can accommodate several congenital anomalies,
Correspondence: Dr Suleyman Bayraktar, MD Haseki
Research and Education Hospital, Istanbul, Turkey.
E-mail [email protected]
they need to be examined carefully. In the present
study, a case with Goldenhar syndrome and
congenital anomalies is reported to emphasize the
importance of early detection of the disease, which
can drastically affect the rest of the life of the patient
with vertebral anomalies, cardiac problems, and
hearing difficulties.
Case Report
A 72-day-old male patient (third child) from 30year-old parents came to the hospital for a regular
check-up. The parents also had a second-degree family
relation. The physical findings from the visit were:
the length, weight and skull circumference of the
patient were in the 25–50 centile, accessory lobes in
preauricular area, asymmetric face, limbal dermoid at
the left eye (Fig. 1) and 2/6 heart murmur. It was
found that eye and ear anomalies had been present
since the birth, but the problem had not been
reported to any medical facility.
The first laboratory results indicated that the
cranifacial ratio in craniography was increased,
mandibue was hypoplastic, there was one-sided lost
height at cervical vertebras and vertebra graphics,
and vertebral corpus integrity was lost (Fig. 2).
Telecardiography showed cardiomegaly, and echocardiography results indicated perimembrane ventricular septal defect and ventricular septal aneurysm.
In order to identify the inner-ear pathology,
brain stem-evoked potentials were conducted
and bilateral high frequency hearing-loss was
found. However, there was no pathology at cranial
ultrasonography.
ß The Author [2005]. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
doi: 10.1093/tropej/fmi020 Advance Access Published on 26 September 2005
377
CASE REPORT
Fig. 1. Accessory lobes at both preauricular areas, asymmetry of face, and limbal dermoid at left eye.
Fig. 2. High ratio on craniafacial craniagraphy,
hypoplasic mandible, one-sided height loss at cervical
vertebras and disintegration of vertebral corpus.
Family history showed that the first baby born
to the couple had similar eye and ear anomalies, and
died 6 months after birth because of cardiac
problems.
The other laboratory tests and examinations did
not show any other pathology and the patient
entered a medical treatment program.
Discussion
Although Goldenhar syndrome can be detected by
ear deformities, eye findings and vertebral anomalies
at the birth, this was the first visit by the patient to
a doctor.
378
There could be many anomalies other than
common easy-to-see eye and ear pathologies.
Vertebral anomalies, congenital heart anomalies,
hearing defects, teeth anomalies, split lips or/and
palate, mental retardation, and lipomas at corpus
callosum are possible.3–5
Cardiovascular malformations occur in patients
with Goldenhar syndrome is 5–58 per cent.11 The
most common cardiac anomalies are ventricular
septal defect and Fallot’s tetralogy.12 Color doppler
echocardiography results for our patient showed
a perimembrane aneurysm formation and a small
ventricular septal defect.
Although patients with Goldenhar syndrome are
mostly treated for facial deformities, spinal deformities have started to get more attention in recent
years because of the possible serious complications.
Cervical 1–2 vertebrae instability may cause incubation difficulties and cord injuries during general
anesthesia when adenoid hipoplazia is required.
Children with Goldenhar syndrome may have
several anomalies that require general anesthesia.
Once Goldenhar syndrome is diagnosed, patients’
flexion–extension must be measured every 6 months
and C1–C2 fusion operation must be applied when
required.13 In addition to this, patients must be
observed in terms of scoliosis. For example, if
progressive scoliosis exists (higher than 50 Cobb),
instrumentation or fusion operation should be
applied. If the patient would be operated on for
reconstruction, cervical malformations and instabilities must be examined before the operation.14
Since dermatological and ear developments at the
embryological stage happen in neural crest cells,15
hearing and dermatological problems may occur
together. Hearing loss for these cases is usually
bilateral and may be sensorineural or conductive in
origin, hearing problems are also possible. These
problems become clear with a high frequency sound
test and can be discovered soon after birth.3 Therefore, necessary audiological examinations should
be ordered before any complaint, since long-term
Journal of Tropical Pediatrics
Vol. 51, No. 6
CASE REPORT
hearing problems may cause significant disability.
In the current case, the use of a hearing aid was
planned for long-term neurosensorial hearing loss.
In order to nourish a Goldenhar syndrome patient
with split lip-palate, an artificial palate or a
nasogastric opening is used. These patients should
be treated with reconstructive surgery as soon as
possible to minimize the possible physiological
problems.16
In conclusion, patients with Goldenhar syndrome can have multiple congenital anomalies, and
they need especially to be examined for vertebral
anomalies. Pediatric specialists should consult with
ear-nose-throat, orthopedics, traumatology, neurosurgery, and ophthalmology clinics to decide on
the most appropriate treatment plan. The patient
reported here had multiple eye, ear, vertebral,
and cardiac problems, and was diagnosed with
Goldenhar syndrome. A treatment program was
planned after discussion with other clinics. The
patient is currently under medical treatment
and observation for other possible malfunctions
(for mental retardation and hearing-speaking
rehabilitation).
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