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| Year : 1985 | Volume
: 31
| Issue : 3 | Page : 177-9 |
Goldenhar syndrome (a case report).
Kulkarni VV, Shah MD, Parikh AA
How to cite this article:
Kulkarni V V, Shah M D, Parikh A A. Goldenhar syndrome (a case report). J Postgrad Med 1985;31:177 |
Many syndromes representing problems in the morphogenesis of branchial arches[5],[8] have been reported. Goldenhar syndrome is one such morphogenetic anomaly involving the 1st and 2nd branchial arches. It is also known as the oculoauriculovertebral syndrome because of the association of eye anomalies with or without vertebral and ear anomalies. It was first described by Von Arlt[1] in 1845 but Goldenhar[4] defined the syndrome more clearly almost a century later.
One and a half month old male child born of non-consanguinous parents was brought with abnormalities of the eyes and ears since birth. The child was second of the twins delivered vaginally at full term . The antenatal, intranatal and postnatal periods were uneventful. He was the youngest of five sibs. All other family members including an older male sib and the other twin sib were normal.
On examination, the child was markedly undernourished weighed only 1.9 kg and showed the following abnormal features. [Fig. 1]
Facial features: Hypoplasia of the right malar region, macrostomia, tongue tie, high arched palate, depressed frontal region above the right medial canthus, hypertelorism, antimongoloid slant of eyes, depressed bridge of the nose and anteverted nostrils [Fig. 2].
Ears: The child had normal size but low set ears with bilateral pre-auricular tags and leftsided pre-auricular pits.
Eyes: Both the eyes showed colobomas in the tipper eyelids and epibulbar dermoids. The left eye had a perforated corneal ulcer and uveal and vitreous prolapse due to exposure. There was no microcornea, micro-ophtalmia, ptosis, coloboma of the iris or choroid or a cataract. There were no skull, spinal, rib or limb anomalies. Systemic examination did not reveal any cardiovascular or renal abnormality.
His investigations revealed a normal haemogram, normal blood urea nitrogen and serum creatinine. Roentgenograms of the skull, spine, r chest and abdomen were normal. Abdominal ultrasound and intravenous pyelogram revealed structurally and functionally normal kidneys.
The incidence of Goldenhar syndrome has been reported to be between 1:3500 to 1:5600,[6] with a male: female ratio of 3:2.[6] The exact etiology is not known. However, it is believed to be due to abnormal embryonic vascular supply to the first arch[9] and abnormality of mesoblastic development affecting the formation of branchial and vertebral systems. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance[2],[7] have also been suggested. The predominant unilateral occurrence of this condition has been designated as hemifacial microsomia.[5] Interestingly, hemifacial microsomia mainly occurs on the right side. According to Smith,[11] ocular anomalies, especially bilateral epibulbar dermoids are seen in 60%, vertebral anomalies in 40 to 60% and ear anomalies in 40% of cases. This explains the absence of vertebral anomalies in the present case. The syndrome may require to be differentiated from the following conditions:
1. Treacher Collins syndrome[2],[10] (Mandibulofacial dysostosis) is another anomaly of the branchial arches but it is characterised by bilateral symmetrical mandibular and maxillary hypoplasia and a less common occurrence of eye and ear anomalies. In this syndrome colobomas affect lower eyelids rather than upper eyelids.
2. Ear anomalies may also occur in Pierre Robin syndrome,[3] Moebius syndrome[12] and thalidomide embryopathy. However, these conditions have their own distinguishing features (e.g. marked mandibular hypoplasia in Pierre Robin syndrome, sixth and seventh nerve palsies in Moebius syndrome and phocomelias and amelias in thalidomide embryopathy). The structural anomalies of the eyes and ears in Goldenhar syndrome can be corrected by plastic surgery. Plastic surgery is usually postponed until the growth of the structure is completed. The epibulbar dermoids should be removed. They may regrow and recurrence has been observed as long as 12 years after original surgery. Orthodontic treatment may be required for maloccluded teeth. Hearing defect should be looked for and if detected, may be improved by the use of hearing aids early in life, provided it is because of conductive deafness.
We are thankful to Dr. G. B. Parulkar, Dean, Seth G.S. Medical College and K.E.M. Hospital, Parel, Bombay-400 012, for his kind permission to publish the paper.
| 1. | Arlt, F. von: Klinische Darstellung der Krankheiten des Teyes. W. Braunmuller, Wien, 1881. Quoted by Gorlin et al 1964.[5]  |
| 2. | Collins, E. T.: Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans. Ophthalmol. Soc. U.K., 20: 190, 1900. Quoted by Salmon and Lindenbaum (1978).[10] |
| 3. | Dennison, W. M.: The Pierre-Robin syndrome. Paediatrics, 36: 336-341, 1965. |
| 4. | Goldenhar, M.: Association malformatives de I'oeil et de I'oreill en particulier le syndrome dermoide epibulbaire - appendices-auriculares-fistula auris congenita et ses relations avec la dysostose mandibulofaciale. J. Genet. Hum., 1: 243-282, 1952. Quoted by Salmon and Lindenbaum (1978).[10] |
| 5. | Gorlin, R. J., Pindberg, J. J. and Cohen, M. M.: Oculo-auriculo-vertebral dysplasia. In, "Syndromes of the Head and Neck." McGraw-Hill Book Company, A Blackiston Division, New York, London and Johannesberg, 1964, p. 546. |
| 6. | Grabb, W. C.: The first and second brachial arch syndrome. Plast. and Reconstruct. Surg., 36: 485-508, 1965. |
| 7. | Hermann, J. and Opitz, J. M.: A dominently inherited first arch syndrome. Birth Defects. 5: 110-112, 1969. |
| 8. | Langman, J.: First arch syndrome. In, "Head and Neck." In, "Medical Embryology," 4th Edition, Williams and Wilkins, Baltimore/London, 1981, pp. 278-279. |
| 9. | McKenzie, J.: The first arch syndrome. Arch. Dis. Childh., 33: 477-486, 1958. |
| 10. | Salmon, M. A. and Lindenbaum, R. H.: "Developmental Defects and Syndromes." H. M. + M. Publishers, London, 1978, p. 40. |
| 11. | Smith, D. W.: Recognizable patterns of human malformations. In, "Major Problems in Clinical Paediatrics," W. B. Saunders Company, Philadelphia, 1982, pp. 168-169. |
| 12. | Summit, R.: Familial Goldenhar Syndrome: Birth Defects, 5: 106-109. 1969. |
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