Ocular Hypertelorism with Cleft Palate and Giant-Cell Tumor

Abstract

OCULAR hypertelorism (νπϵρ, too much; τηλϵ apart; οριδω, to separate) as an entity was first described by Grieg (1), in 1924, who presented a complete clinical and pathologic picture. Our review of the literature regarding this developmental, congenital condition reveals that less than thirty cases have been reported to date. Etiologically little is known of this condition. Abernethy (2) and Braithwaite (3) suggest an endocrine basis. Abernethy also made an interesting observation in regard to the hereditary aspect and states: “The shape of the sphenoid, like the number of digits, may be developmentally one of the ‘weak’ spots which, though normally fixed, are more liable to extra-normal variation, whether advantageous or disadvantageous to their possessors, than the other members of the body.” Grieg (1) in his original article remarked: “In this anomaly about the third month of fetal life the lesser wings increase greatly in width, so much so that they may be equal to, or even greater than, the greater sphenoidal wings. The lesser wings of the sphenoid form the posterior part of the roof of the orbit. Thus, due to the enlargement and premature ossification of the lesser wings, the fetal lateral deviation of the orbit remains fixed.” Ogilvie and Posel (4) also account for the peculiar facies thus: “An enlargement of this wing … pushes the whole frontal and maxillary bones upward, forward, and outward. An internasal bone is thus necessary and a retrousse nose develops. The tilting of the frontal bone … explains the combination of low forehead with slight prominence of the frontal eminences.” Reilly (5) comments on the fact that additional deformities and stigmas may be found, such as high palates, syndactylism, and undescended testes. The clinical characteristics are: A. Comparatively large skull with the vertex flattened and a small face (brachycephalic skull). B. Wide spaced orbits with the horizontal axes of the eyes directed more laterally than normal. C. The bridge of the nose widened and flattened, with a retrousse nose. D. Mental deficiency usually although the individual may have normal intelligence. Although hypertelorism as an entity is largely of academic interest, in view of the paucity of cases reported with coexisting congenital anomalies and no previous mention of associated cleft plate and giant-cell tumor, we feel that the case reported here should be added to the literature. G. M., aged four years, was admitted to the hospital on Jan. 27, 1938, with chief complaint of painful micturition and marked dysuria of one week's duration. There was no gross bloody urine but the color of the urine was dark. There was no frequency, vomiting, chills, or fever.