CRANIOFACIAL DYSOSTOSIS: CROUZON'S DISEASE

Abstract

IN 1912 Crouzon presented his classic paper to the Medical Society of the Hospitals of Paris. It was a report on two patients, a 29-year-old mother and her 3-year-old son, with strange malformations of the face and head to which he gave the name "hereditary craniofacial dysostosis." In general Crouzon listed the following factors as characteristic of the disease: 1) cranial malformation that is a combination both of a skull in the shape of a boat (scaphocephaly) and in the shape of a wedge (trigonocephaly); 2) malformation of the face resulting in an arched nose resembling a parrot's beak and marked protrusion of the mandible beyond the maxilla (prognathism); 3) bilateral exophthalmos with external strabismus; and finally 4) a hereditary and familial occurrence of these malformations. In addition to these four main characteristics of the syndrome, the child described in Crouzon's paper also had suffered from epilepsy and urinary incontinence. In discussing the possible etiology of this disorder, the author favored the hypothesis that it represented a hereditary malformation of embryonic origin. Since this original report, Crouzon and others have had the opportunity to see and report on additional cases of this strange malady. Atkinson reviewed the literature in 1937 and found that, to that time, 86 certain cases of this condition had been reported. In 28 of the 86 cases occurrence of the disorder in other members of the afflicted member's family was not mentioned. Vogt described this condition associated with syndactylism, and in 1942 Arce and Arce reviewed the roentgenologic findings in eight cases of pathologic synostosis of the vault, including Crouzon's disease. Parks and Costenbader presented the cases of three patients having Crouzon's disease, one of whom had undergone operation, and Pinkerton and Pinkerton reported four cases of craniofacial dysostosis in a family of seven. Three members of the family reported by the Pinkertons, including the father, were normal. Four others in this family, including the mother, had Crouzon's disease. One of those affected was a 3½-year-old girl with marked visual impairment and ophthalmoscopic evidence of chronic increased intracranial pressure. Cranial surgery was recommended in this instance but was refused.