Journal of Pediatric Ophthalmology and Strabismus

Goldenhar Syndrome

R Natarajan, MBBS, DOMS, MS; M Mathew, MBBS, MS

Abstract

Goldenhar in 1952 described a patient who had epibulbar dermoids, accessory auricular appendages and a congenital auricular fistula.' These anomalies were attributed to a faulty development of the first and second branchial arches and the first branchial cleft. Subsequent case descriptions of the syndrome have shown an association with conditions such as coloboma of the upper eye, microphthalmos, microcornea, coloboma of the uvea, hypoplastic upper and lower jaw, microtia, and macrostomia. Among the patients described there are also some in whom structures other than those derived from the first branchial arches have been affected: anomalies of the cervical vertebrae, cardiovascular anomalies, cleft palate, mental retardation, hydrocephalus, meningoencephalocele, and ? group of chromosomal disorders.2

CASE REPORTS

Four children with Goldenhar's syndrome were seen in the Ophthalmology Department of Lady Hardinge Medical College and Hospital. These patients show some deviations from the classical syndrome as described.

Patient No. 1

A female Hindu child, age six weeks, presented with white fleshy swellings at the limbus of both eyes, watering of the eyes, inability to close the mouth, and deformities of the external ear. There was no history of consanguinity in the family. Systemic examination did not reveal any abnormalities.

On local examination there was a soft whitish red mass 1/2 cm ? 1/2 cm at the limbal region of both eyes extending on to the cornea for 2 mm from the 7 to 8 o'clock position in the right eye and the 4 to S o'clock position in the left eye. The swelling extended to the lateral canthus in both eyes (Fig. 1). Few hairs could be seen on it. The funduscopic examination was unremarkable. No dental or palatal abnormalities were present. There was an accessory auricle with pretragal fistula and macrostomia on the right side.

Roentgenography of the vertebral column revealed no abnormalities but films of the mandible showed hypoplasia on the right side. Urine and blood studies revealed no abnormalities. The child's macrostomia was repaired by plastic surgery. One month after surgery the child developed a cataract in both eyes which progressed quite rapidly (Fig. 2). Needling was done in both eyes. The child, now four years old, does not walk properly. Her development is delayed and she is mentally retarded.

Patient No. 2

A female Hindu child aged 18 months was seen with deformities of the external ear, a wide mouth, and a swelling at the left limbus. Systemic examination did not reveal any abnormalities.

Local examination disclosed a whitish-yellow fleshy mass measuring 1/4 cm X 3/4 cm at the left limbal region extending on to the cornea for about 3 mm in the 4 to 6 o'clock position. The swelling extended up to the lateral canthus. A few downy hairs could be seen on the growth. The eyes did not reveal any other abnormalities. The fundus was normal. There were multiple chalazions on both lids as well as an accessory auricle, a pretragal fístula, and macrostomia on the left side (Figs. 3 and 4).

Roentgenographic evaluations of the spine and mandible as well as studies of urine and blood were unremarkable. Surgery was advised, but the parents refused to give consent.

Patient No. 3

A 12-year-old male -child was admitted to the hospital with a nodule present since birth, encroaching on the cornea in the right eye; the progress of this was minimal. He had drooping of the shoulders with prominence of the right shoulder and webbing of the neck. On general examination, there was scoliosis to the right (Fig. 5). The patient had three preauricular tags on the right side with slight deformity of the tragus, one accessory…

Goldenhar in 1952 described a patient who had epibulbar dermoids, accessory auricular appendages and a congenital auricular fistula.' These anomalies were attributed to a faulty development of the first and second branchial arches and the first branchial cleft. Subsequent case descriptions of the syndrome have shown an association with conditions such as coloboma of the upper eye, microphthalmos, microcornea, coloboma of the uvea, hypoplastic upper and lower jaw, microtia, and macrostomia. Among the patients described there are also some in whom structures other than those derived from the first branchial arches have been affected: anomalies of the cervical vertebrae, cardiovascular anomalies, cleft palate, mental retardation, hydrocephalus, meningoencephalocele, and ? group of chromosomal disorders.2

CASE REPORTS

Four children with Goldenhar's syndrome were seen in the Ophthalmology Department of Lady Hardinge Medical College and Hospital. These patients show some deviations from the classical syndrome as described.

Patient No. 1

A female Hindu child, age six weeks, presented with white fleshy swellings at the limbus of both eyes, watering of the eyes, inability to close the mouth, and deformities of the external ear. There was no history of consanguinity in the family. Systemic examination did not reveal any abnormalities.

On local examination there was a soft whitish red mass 1/2 cm ? 1/2 cm at the limbal region of both eyes extending on to the cornea for 2 mm from the 7 to 8 o'clock position in the right eye and the 4 to S o'clock position in the left eye. The swelling extended to the lateral canthus in both eyes (Fig. 1). Few hairs could be seen on it. The funduscopic examination was unremarkable. No dental or palatal abnormalities were present. There was an accessory auricle with pretragal fistula and macrostomia on the right side.

Roentgenography of the vertebral column revealed no abnormalities but films of the mandible showed hypoplasia on the right side. Urine and blood studies revealed no abnormalities. The child's macrostomia was repaired by plastic surgery. One month after surgery the child developed a cataract in both eyes which progressed quite rapidly (Fig. 2). Needling was done in both eyes. The child, now four years old, does not walk properly. Her development is delayed and she is mentally retarded.

Patient No. 2

A female Hindu child aged 18 months was seen with deformities of the external ear, a wide mouth, and a swelling at the left limbus. Systemic examination did not reveal any abnormalities.

Local examination disclosed a whitish-yellow fleshy mass measuring 1/4 cm X 3/4 cm at the left limbal region extending on to the cornea for about 3 mm in the 4 to 6 o'clock position. The swelling extended up to the lateral canthus. A few downy hairs could be seen on the growth. The eyes did not reveal any other abnormalities. The fundus was normal. There were multiple chalazions on both lids as well as an accessory auricle, a pretragal fístula, and macrostomia on the left side (Figs. 3 and 4).

Roentgenographic evaluations of the spine and mandible as well as studies of urine and blood were unremarkable. Surgery was advised, but the parents refused to give consent.

Fig. !: Bilateral dermoid congenita/ cataract and macros tomia.

Fig. !: Bilateral dermoid congenita/ cataract and macros tomia.

Fig. 2: Same patient, showing extra auricle and blind pretragal fistula on right side.

Fig. 2: Same patient, showing extra auricle and blind pretragal fistula on right side.

Fig. J: Dermoid on the left side, »microstomia, and multiple chalazion.

Fig. J: Dermoid on the left side, »microstomia, and multiple chalazion.

Fig. 4: Side view, showing accessory auricle and pretragal fistula on left side.

Fig. 4: Side view, showing accessory auricle and pretragal fistula on left side.

Fig. 5: Scoliosis to right, prominence of scapulae.

Fig. 5: Scoliosis to right, prominence of scapulae.

Fig. 6: Bilateral dermoid and preauricular tags, on , right side. On close study, small sinus on the nose can be seen.

Fig. 6: Bilateral dermoid and preauricular tags, on , right side. On close study, small sinus on the nose can be seen.

Fig. 7: Accessory auricle on left side.

Fig. 7: Accessory auricle on left side.

Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.

Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.

Patient No. 3

A 12-year-old male -child was admitted to the hospital with a nodule present since birth, encroaching on the cornea in the right eye; the progress of this was minimal. He had drooping of the shoulders with prominence of the right shoulder and webbing of the neck. On general examination, there was scoliosis to the right (Fig. 5). The patient had three preauricular tags on the right side with slight deformity of the tragus, one accessory auricular tag in front of the left tragus, and a small one in front of the ascending helix at the incisure terminata. A small sinus 0.05 cm deep was noted on the anterior aspect of the nose in the midline l.S cm above the tip with a tuft of hair (Fig. 6).

The chest was found to be asymmetrical, the right side being more prominent than left. The lungs were clear. There was a precordial bulge, the cardiac size was within normal limits, and a systolic thrill was present over the apical region. A grade II systolic murmur was present in the mitral area and there was splitting of the pulmonary second sound.

The vision was 6/12 in the right eye and 6/6 in the left eye. There was microphthalmia on the right side. A yellowish growth measuring 1 cm x 1 cm was seen at the limbal region extending on to the cornea for 3 mm from 6 to 8 o'clock. The swelling extended up to the lateral canthus and a few hairs were seen on it (Fig. 6). The fundi were normal.

Findings from the routine investigations of blood, urine, stool, eye swab, intelligence test and electrocardiogram were normal. Roentgenograms of the spine showed marked scoliosis in the cervical and dorsal regions, block vertebrae, and hemivertebrae in the cervical region. An audiogram revealed middle frequency impairment up to 40-45 db. Cytogenetic studies were done. Visual karyotyping on microscopy appeared normal. Photography showed a slight abnormality of the A group of chromosomes.

The patient's epibulbar dermoid was removed along with the accessory auricles.

Patient No. 4

A ten-month-old female child was admitted with fever, multiple boils all over the body, and mucopurulent conjunctivitis (Fig. 7). She was born full-term by a normal delivery. There was no history of infection or intake of drugs by the mother during pregnancy. There was no history of consanguinity. On examination the child had mucopurulent conjunctivitis and acute dacryocystitis on the left side (Fig. 8). Other findings included extra auricles on both sides, macrostomia, and a dermolipoma on the left side. There was concomitant convergent squint of an alternating type measuring 20 degrees. There were coloboma of the iris, notching of the lens, coloboma of the retina and choroid, and a rotatory type of nystagmus (Figs. 7 and 8). Systemic examination revealed a grade II systolic murmur with splitting of the second sound in the pulmonary area.

DISCUSSION

The etiology of Goldenhar's syndrome is unknown. Smithelis3 noted the occurrence of influenza during the sixth week of gestation in the mother of a patient. Ladekarl4 in his case report noted that the mother had had cholecystographic investigation in the fourth week of pregnancy. Zweymuller and Stur * reported a patient whose mother had had rubella in the eighth week of pregnancy. Mandlecorn and associates2 described a patient whose mother had ingested three pills for the treatment of threatened abortion in the seventh week of gestation. These latter authors after reviewing the three patients mentioned earlier along with their own postulate that the etiological agent in Goldenhar's syndrome not only causes malformation of the branchial arch but gives rise to general malformations. Their own patient had congenital deformities of the limbs, kidney, pancreas, and intestines.

In the present study the history of a possible noxious agent could not be elicited from any of the mothers concerned. The inability to obtain a positive history might have been because the mothers in each case were uneducated, coming from the lower socioeconomic groups.

SUMMARY

Four patients with Goldenhar's syndrome are presented. The deviations from established findings noted were the occurrence of cataract during observation in patient No. 1, blind fistula on the nose in patient No. 3, and heart lesions in patients No. 3 and 4.

ACKNOWLEDGMENT

We are most grateful to Dr. S. Achaya, D.G.O.; M.S., F.R.C.S., Principal and Medical Superintendent of Lady Hardinge Medical College and Hospital, for her kind permission to publish this paper.

REFERENCES

1. Goldenhar M: Associations malformatives del'oeil et de i'oreille, en particulier le syndrome ei dermoide epibulbaire-appendices auriculaires fistula auris congenita et ses relations avec la dysostose mandibuiofaciale. J Genet Hum 1:243, 1952.

2. Mandelcorn MS, Merin S, Carda-Relli: Goldenhar syndrome and phocomelia. Am J Ophthalmol 72:618, 1971.

3. Smithells RW: Oculo-auriculo-vertebral syndrome (Goldenhar's syndrome). Develop Med Child Neurol 6:406, 1964.

4. Ladekarl S: Combination of Goldenhar's syndrome with the cri du chat syndrome. Acta Ophthalmol 46:605, 1968.

5. Zweymuller E, Stur O: Formal causal genesis of dysostosis mandibulo facialis. Newe Oesterr Ztschr Kinderheilk 2:321, 1957.

6. Gupta JS, Gupta SD, Prashar SK: Oculoauricular cranial dysplasia. Brit J Ophthalmol 52:346, 1968.

7. Pieroni D: Goldenhar's syndrome associated with bilateral Duane's retraction syndrome. J Pediat Ophthalmol 6:16, 1969.

8. Sugar HS: The oculo-auriculo-vertebral dysplasia syndrome of Goldenhar. Am J Ophthalmol 62:678, 1966.

9. Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology, Vol 1. Assen, Netherlands, Royal van Gorcum, 1961, p 283.

10.3928/0191-3913-19730801-08

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