Goldenhar's Syndrome Associated with Multiple Congenital Abnormalities

Abstract

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, 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 30-year-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.

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.

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 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).

References

Author notes

aHaseki Research and Education Hospital, Istanbul, Turkey; bGokceada General Hospital, Turkey