Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations.

Three generations of a family affected by a craniocervical malformation (CCM) were subjected to clinical and radiological studies. Occipital dysplasia (OD) and Chiari type I deformity (CD.I) were the main features, inheritance being autosomal-dominant. The malformation was variably expressed; it ranged from OD with basilar impression (BI) to OD without BI and from CD.I with OD to CD.I without obvious osseous malformation. Its pathogenesis, and that of other related familial disorders (Klippel-Feil syndrome and syringomyelia), is discussed, the conclusion being drawn that all were elements of one genetic disorder which finds expression in a very variable sequence. The value of high-resolution CT in the detection of asymptomatic carriers is emphasized.