Dysplasie des Limbus corneae, des mesodermalen Irislagers sowie des Kieferskelettes in einer Familie

Abstract

Ten members of the family B./A. (belonging to two generations) who had dysplasia of the anterior mesodermal layer of the iris were examined. Several of them also had moderate microcornea. The shape of the skull was remarkable, with micrognathia, in some cases combined with mandibular prognathism and early loss of the teeth. Members of the older generation suffered from pannus, although only pingueculae had been present in youth and adolescence. The anomaly of the anterior part of the eye combined with "dysostosis maxillofacialis" (Peters and Hövels) may represent an abortive form of Rieger's syndrome. An aggressive pannus does not appear to have been described before in this syndrome or related diseases.