The first case of the Antley-Bixler syndrome with a consanguinity in Japan

Abstract

Antley-Bixler syndrome has the specific features as brachycephaly, craniosynostosis, midface hypoplasia, depressed nasal bridge, proptosis, dysplastic ears, upper respiratory obstruction, radiohumeral synostosis, joint contructures, arachnodactyly, and femoral bowing and fractures. It is a very rare disease and only five cases have been reported. Its etiology and heredity are unknown. All reported cases were sporadic but present case has the counsinship marriage parents, suggesting genetic disorder of autosomal recessive type. © 1983 The Japan Society of Human Genetics.