Cranio-facial Dysostosis in a Dorset Family.

Crouzon (1912), whose name has been given to the combination of developmental anomalies which he described as hereditary cranio-facial dysostosis, presented his first two cases to the Societe Medicale des H6pitals de Paris. The patients, a mother aged 29 years and her son aged 21 years, had a malformation of the cranial vault consisting of protrusion in the region of the bregma, widening transversely, and shortening antero-posteriorly. The outstanding facial features were bilateral exophthalmos, a beaked nose, a hypoplastic maxilla, and a narrow arched palate. Descriptions of other similar cases followed (e.g. Debre and Petot, 1927), and the skull malformation was shown to be due to premature fusion of cranial sutures. A detailed review of all published papers on the subject was undertaken by Atkinson (1937) who was able to find accounts of 86 cases at that time. Many others have since been added from all parts of the world. Unfortunately the published material on the subject tends to be confused by the other forms of craniosynostosis, either occurring alone or with associated malformations. Terminology is sometimes descriptive of the head shape and this depends upon which sutures unite early. The long narrow head caused by premature fusion of the sagittal suture alone is given the name of dolicocephaly or scaphocephaly (resembling the keel of an upturned boat). When the coronal sutures are mainly affected the skull is short antero-posteriorly and the term brachycephaly is used. Acrocephaly describes the type which forms a pointed prominence in the region of the bregma. Where there is more widespread fusion including coronal, sagittal, and sometimes lambdoid sutures, failure to grow normally in lateral and anteroposterior directions results in the tall cranium with small capacity known as oxycephaly. Here, compression of the growing brain and exophthalmos due to pressure on the orbital roof are likely to occur. Other types have been classified either on the