Journal of Pediatric Ophthalmology and Strabismus

Hypertelorism (Greig's Syndrome): A Case Report

R G Ainley, FRCS

Abstract

A large number of cases of hypertelorism have been described since Greig1 drew attention to a clinical entity that had, until then, been vaguely recognised. For modern reviews see Gross,2 and Walker.3,4 Most reported cases have been sporadic, though small family trees have been published, in most of which the mode of inheritance appeared to be recessive. Brown and Harper5 described families in whom the condition was dominant.

Many associated defects have been described and may be grouped into three categories: -

1. Skeletal: High arched palate, mandibulofacial dysostosis, platybasia, abnormal dentition, syndactyly, absence or hypoplasia of the clavicles, and the KlippelFeil anomaly.

2. Neurological: Mental deficiency, hemiparesis, epilepsy, bilateral sixth nerve palsy, encephalocoele.

3. Ocular: Crater-like holes in the disc (Paufique and Etienne6) , microcornea, microphthalmos (Friede7), blue sclera (Biodi8) , congenital cataract with keratoconus and macular coloboma (Lijo Pavia et al.9) and exotropia (Berliner and Gartner10) .

Outside of these categories, cryptorchidism has often been reported.

The patient to be described shows hypertelorism, high arched palate and cryptorchidism, associated with myopia and an iris anomaly; the last association apparently has not been reported hitherto.

Case Report

The patient, at the age of 11 years, was first seen by the author in February 1968. His only complaint was of occasional diplopia during the previous 18 months. He had worn glasses from the age of four years. There was no history of any notable general medical disorder.

General examination showed a boy of reasonably normal bodily proportions apart from the somewhat large head (Fig. 1). Height and weight were normal for his age group (height, 4 feet 5 inches, 135 cm., weight 37.6 kg.). His behaviour was rational and cooperative and his school ability Acknowledgment: The author thanks Mr. R. A. Neave, Medical Artist, and the Department of Medical Illustration, Manchester Royal Infirmary.

1. Greig, D. M.: Hypertelorism; a Hitherto Undifferentiated Congenital Craniofacial Deformity, Edinb. Med. J., 31:560-593, 1924.

2. Gross, H.: Der Hypertelorism us, Ophthalmologe (Basel) 131:137-156, 1956.

3. Walker, D. G.: Facial Development, Ann. Royal Coll. Surg., 21:90-118, 1957.

4. Walker, D. G.: Malformations of the Face, E. & S. Livingstone Ltd., Edinburgh & London, 1961.

5. Brown, A. and Harper, R. K.: Craniofacial Dysostosis; the Significance of Ocular Hypertelorism. Quart. 31. Med. 15:171-181, 1946.

6. Paufique, L. and Etienne, R.: Contribution a l'etude de la fossette colobomateuse de la papille, Anni. Oculist., Paris, 182:605-616, 1949.

7. Frtf.de, R.: Über physiologische Euryopie und pathologischen Hypcrtelorismus ocularis, ??brecht v. Graefes, Arch. Ophthal., 155:359-385, 1954.

8. Blodi, F. C: Developmental Anomalies of the Skull Affecting the Eye, Arch. Ophthal, 57:593-610, 1957.

9. Lijo, Pavia, J. J.; Brage, D. and Novizki, L.: Macular Coloboma Associated with SomatoOphthalmological Malformation with Recessive Autosomal Heredity, Revue Oto-Neuro-Oftai, 33:33-36, 1958.

10. Berliner, M. L. and Gartner, S.: Hypertelorism, Arch. Ophthal., 24:691-697, 1940.

11. Romanus, T.: Interocular - Biorbital Index. A Gauge of Ocular Hypertelorism" Acta genet. Statist, med. Basle, 4:117-123, 1953.

12. Eskhi.und, V.: Structural Variations of the Human Iris and Their Heredity, with Special Reference to the Frontal Boundary Layer, H. K. Lewis & Co., London, 1938.…

A large number of cases of hypertelorism have been described since Greig1 drew attention to a clinical entity that had, until then, been vaguely recognised. For modern reviews see Gross,2 and Walker.3,4 Most reported cases have been sporadic, though small family trees have been published, in most of which the mode of inheritance appeared to be recessive. Brown and Harper5 described families in whom the condition was dominant.

Many associated defects have been described and may be grouped into three categories: -

1. Skeletal: High arched palate, mandibulofacial dysostosis, platybasia, abnormal dentition, syndactyly, absence or hypoplasia of the clavicles, and the KlippelFeil anomaly.

2. Neurological: Mental deficiency, hemiparesis, epilepsy, bilateral sixth nerve palsy, encephalocoele.

3. Ocular: Crater-like holes in the disc (Paufique and Etienne6) , microcornea, microphthalmos (Friede7), blue sclera (Biodi8) , congenital cataract with keratoconus and macular coloboma (Lijo Pavia et al.9) and exotropia (Berliner and Gartner10) .

Outside of these categories, cryptorchidism has often been reported.

The patient to be described shows hypertelorism, high arched palate and cryptorchidism, associated with myopia and an iris anomaly; the last association apparently has not been reported hitherto.

Case Report

The patient, at the age of 11 years, was first seen by the author in February 1968. His only complaint was of occasional diplopia during the previous 18 months. He had worn glasses from the age of four years. There was no history of any notable general medical disorder.

General examination showed a boy of reasonably normal bodily proportions apart from the somewhat large head (Fig. 1). Height and weight were normal for his age group (height, 4 feet 5 inches, 135 cm., weight 37.6 kg.). His behaviour was rational and cooperative and his school ability Acknowledgment: The author thanks Mr. R. A. Neave, Medical Artist, and the Department of Medical Illustration, Manchester Royal Infirmary.

Fig. 1. Full length view of patient. Note large head and empty scrotal sac.

Fig. 1. Full length view of patient. Note large head and empty scrotal sac.

University Department of Ophthalmology.

Fig. 2. Shows serration of teeth. High arched palate was also present.

Fig. 2. Shows serration of teeth. High arched palate was also present.

appeared average, since he occupied a position halfway down his class. Apart from those in the skull, no skeletal anomalies were found; more specifically, there was no syndactyly or other anomaly of the extremities and the clavicles were normal. He had a high arched palate, with serration of the teeth (Fig. 2). The cardiovascular, respiratory and nervous systems were unremarkable, but the testes were bilaterally undescended and impalpable. Roentgenograms of the skull (Fig. 3) showed no signs of raised intracranial pressure or abnormal calcification. The KlippelFeil anomaly was not present and chest radiographs were likewise within normal limits.

Ocular examination showed the widely-spaced orbits of hypertelorism with a flat nasal bridge, low-set ears, and a small mouth (Fig. 4). The lateral biorbital distance was 10.5 cm. and the distance between the inner canthi 4.3 cm., so that by the criteria of Romanus11 the patient has hypertelorism, since these measurements give an interocular-biorbital index of 244.1 i.e. 10.5/4.3 x 100), According to the data of Romanus the index in pronounced hypertelorism lies between 200 and 300.

Fig. 3. Anterior-posterior x-ray of skull. Note wide spacing of orbits.

Fig. 3. Anterior-posterior x-ray of skull. Note wide spacing of orbits.

Ocular movements showed marked elevation of each eye on lateral version to the opposite side, possibly due to over-action of the inferior obliques. Cover test revealed exophoria with slow recovery for near and distant vision, with a right hyperphoria.

Corneal diameters were 11.75 mm. vertically and 12 mm. horizontally in each eye. The most striking feature was the iris pattern (Fig. 5). The irides were basically blue, but with a superimposed peripheral rim of white tissue. This corresponds in some respects to the condition described by Eskelund,12 in which the anterior layer exhibits a loose structure centrally but is compact peripherally. In the present case there is a marked plane of cleavage between the anterior and posterior leaves of the iris. Gonioscopically, the dense white iris tissue did not extend into the angle of the anterior chamber, there were no unusual iris processes, and the angles were open, medium in width. Serial applanation tension readings, tonography, the optic fundi and the visual fields were all normal. Refraction showed asymmetrical myopia (R.E. -8.00/ + 1.50 -^ 165" =6/9. L.E. -2.50/ +0.50^-15° = 6/6).

The family history was inconclusive in deciding the genetic status of the case described. The patient's mother and three siblings (two brothers, one sister) were examined and showed no evidence of hypertelorism or any refractive error. Their irides did not resemble those of the patient except in colour. The patient's father, who died by accident two years ago, was said to have had "eye trouble." Notes obtained from an ophthalmologist who had seen him in 1964 recorded high myopia (R.E.- 20.00/ -f- 1 -00 f 90* =2/60. L.E. -23.00/+2.00<-25°=6/9); with right macular degeneration, but no mention of hypertelorism. Photographs of the patient's father do not suggest he was hyperteloric. The patient, therefore, appears to be a sporadic example of the condition.

Summary

A case of hypertelorism associated with high arched palate, myopia, an iris anomaly and cryptorchidism is described. Inheritance was presumed to be recessive.

Fig. 4. Full-face view of patient. Note wide interocular distance, small, low-set ears and small mouth.

Fig. 4. Full-face view of patient. Note wide interocular distance, small, low-set ears and small mouth.

Fig. 5. From a painting of the iris. Note peripheral rim of white tissue, with marked plane of cleavage between the anterior and posterior leaves of the iris. The central part of the iris was blue.

Fig. 5. From a painting of the iris. Note peripheral rim of white tissue, with marked plane of cleavage between the anterior and posterior leaves of the iris. The central part of the iris was blue.

References

1. Greig, D. M.: Hypertelorism; a Hitherto Undifferentiated Congenital Craniofacial Deformity, Edinb. Med. J., 31:560-593, 1924.

2. Gross, H.: Der Hypertelorism us, Ophthalmologe (Basel) 131:137-156, 1956.

3. Walker, D. G.: Facial Development, Ann. Royal Coll. Surg., 21:90-118, 1957.

4. Walker, D. G.: Malformations of the Face, E. & S. Livingstone Ltd., Edinburgh & London, 1961.

5. Brown, A. and Harper, R. K.: Craniofacial Dysostosis; the Significance of Ocular Hypertelorism. Quart. 31. Med. 15:171-181, 1946.

6. Paufique, L. and Etienne, R.: Contribution a l'etude de la fossette colobomateuse de la papille, Anni. Oculist., Paris, 182:605-616, 1949.

7. Frtf.de, R.: Über physiologische Euryopie und pathologischen Hypcrtelorismus ocularis, ??brecht v. Graefes, Arch. Ophthal., 155:359-385, 1954.

8. Blodi, F. C: Developmental Anomalies of the Skull Affecting the Eye, Arch. Ophthal, 57:593-610, 1957.

9. Lijo, Pavia, J. J.; Brage, D. and Novizki, L.: Macular Coloboma Associated with SomatoOphthalmological Malformation with Recessive Autosomal Heredity, Revue Oto-Neuro-Oftai, 33:33-36, 1958.

10. Berliner, M. L. and Gartner, S.: Hypertelorism, Arch. Ophthal., 24:691-697, 1940.

11. Romanus, T.: Interocular - Biorbital Index. A Gauge of Ocular Hypertelorism" Acta genet. Statist, med. Basle, 4:117-123, 1953.

12. Eskhi.und, V.: Structural Variations of the Human Iris and Their Heredity, with Special Reference to the Frontal Boundary Layer, H. K. Lewis & Co., London, 1938.

10.3928/0191-3913-19680801-05

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