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 inter-pupillary 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 of 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.