Hypertelorism in Neurofibromatosis

Abstract

In eight out of thirty-four patients with neurofibromatosis hypertelorism was seen. This hypertelorism was diagnosed by measuring the intercanthal distance and calculating the interpupillary distance from it. The high incidence of hypertelorism in our group of patients (24 %) makes its direct association with neurofibromatosis feasible. Moreover, hypertelorism was found exclusively in neurofibromatosis patients with brain involvement (8 out 11) and therefore seems to herald a severe expression of Morbus Recklinghausen. The bones of the face and the base of the skull are mesenchymal structures of neural crest origin and skull dysplasias - e. g. hypertelorism - fit well into the neurocristopathy concept of neurofibromatosis. Its ease of clinical recognition and its presence at birth makes the hypertelorism an early diagnostic criterium.

In neurofibromatosis osseous craniofacial anomalies have been reported by Le Wald (1933), Peyton and Simmons (1946), Holt and Wright (1948), Burrows (1963) and Tänzer (1966). Macrocranium, combined maxillo-zygomatico-temporo-mandibular hypoplasia, widening of the sella turcica and the middle cranial fossa, hypoplastic sinuses, defects of the posterosuperior wall of the orbit and enlarged outline and empty appearance of the orbit are mentioned, and it is justified to include those anomalies in the group of skeletal disorders characteristic of neurofibromatosis (Hunt and Pugh 1961). Binet et al (1969) stated that in neurofibromatosis there is a relatively high prevalence of orbital changes. By examination of patients with neurofibromatosis in a joined protocol of the neurological and dermatological departments we received an impression of hypertelorism in some of those patients. As hypertelorism has never been emphasized as a clinical feature of neurofibromatosis we analysed these cases.

Key words

Neurofibromatosis - Hypertelorism - Neurocristopathy - Interpupillary distance