Orbital hypotelorism, arhinencephaly, and trigonocephaly.

Abstract

Roentgenographic examination of the skull in frontal projection provides, among other information, an opportunity to evaluate the distance between the orbits. An increased interorbital distance is a characteristic feature of ocular hypertelorism or Greig's disease (8). A decrease in this cranial dimension, which properly may be termed orbital hypotelorism, is found in arhinencephaly and in trigonocephaly. In this paper, the normal range of the interorbital distance in infants and children, as determined in a series of skull roentgenograms, will be presented, and two illustrative instances of orbital hypotelorism will be reported: the first patient was affected by arhinencephaly, the second by simple trigonocephaly. The subjects of orbital hypotelorism, arhinencephaly, and trigonocephaly and the relations which exist among these three malformations will be reviewed. Case Reports Case I (Fig. 1): A white female infant was admitted to the hospital at two and a half months of age for repair of “harelip and cleft palate.” She was born at term following a normal pregnancy and delivery. The father and mother were in good health; their ages were thirty-nine and forty years, respectively. The mother had had two other apparently normal children by a previous husband. At birth, the patient weighed 3,150 gm.; her head circumference was 28.5 cm. (normal, 34.6 cm.). During the first two months of life, she had two left-sided convulsions and showed nystagmus and some spasticity of the extremities. On admission, the child weighed 4,200 gm. and the circumference of her head was 34.5 cm. (normal, 40.6 cm.). The epicanthal folds were prominent and there was a mongoloid slant of the palpebral fissures. The eyes were close-set, bulged slightly, and showed a bilateral nystagmus. The forehead was well shaped. The nose and nasal bridge were flat. The nasal bones and the nasal septum were absent. In the upper lip, there was a mid-line cleft which extended into the single nasal opening (absent philtrum). A bony defect, 0.5 cm. in width, was present in the mid-portion of the superior alveolar ridge (absent premaxilla). The palate was normal. The tongue was thought to be enlarged. The extremities were somewhat spastic, but the patient moved them freely. The rest of the physical examination was not remarkable. Roentgenograms of the skull, taken at eight days of age (Fig. 2), showed a small frontal bone and a small anterior cranial fossa. The roofs of the orbits were high in position. The metopic suture and the other cranial sutures were open in their entirety and normal in width. The interorbital distance was markedly reduced (0.55 cm.); this finding was more pronounced radiographically than clinically. A first-stage operation for the defect in the upper lip was undertaken at three months of age.