[Familial occurrence of oculoauricolovertebral dysplasia and Franceschetti syndrome]

Oculoauriculovertebral dysplasia (OAV) and the Franceschetti syndrome (FS) are well-known complexes of anomalies that have dysplasias of the external ear as a common occurrence. In this study the specific patterns of symptoms and familial occurrences of 100 patients with external ear dysplasias were examined (88 patients with OAV dysplasia and 12 patients with FS). Analyzing the pedigree data of the probands, we ascertained the relatives with striking symptoms and associated anomalies of OAV dysplasia. The aim of this study was to determine the influence of genetic transmission on OAV dysplasia in comparison to FS. A striking family history was found in 66.6% of the patients with FS. In 26.1%, family members of patients with OAV dysplasia had external ear dysplasias or other striking symptoms of OAV dysplasia. In this complex of anomalies we also found a higher frequency of skeletal deformities and congenital heart defects than in the normal population. On the basis of our results we suggest that there is a genetic transmission in patients with FS as well as in some cases with OAV dysplasia. Our findings show that it is absolutely necessary to analyze family history very carefully when discussing the recurrence risk or risk of genetic transmission.