Hypertelorism in neurofibromatosis.

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.