Antley–Bixler-Syndrome – Staged management of craniofacial malformations from birth to adolescence – A case report

In 1975 Antley and Bixler described an unusual syndromal disorder consisting of complex craniosynostosis with midfacial hypoplasia, dysplasia of ears and nose, radiohumeral synostosis, congenital fractures of the femur and upper airway impairment in a newborn. Additional urogenital and cardiac malformations can be associated however diagnosis is based on a characteristic craniofacial deformity in association with humeroradial synostosis. Complex disturbance of craniofacial growth due to premature synostoses of the cranial base and vault results in a characteristic phenotype.Steroidogenesis due to intrinsic or extrinsic disturbance by maternal fluconazole ingestion during early pregnancy may be impaired. The mode of inheritance is supposed to be autosomal recessive. Mutations in the fibroblast growth factor receptor 2 (FGFR2) as well as mutations in the cytochrome P450 oxidoreductase (OR) gene have been verified. Like in other craniofacial dysostosis syndromes malformation of neuro- and viscerocranium is complex and requires a staged age- and growth-related interdisciplinary management with respect to the individual situation. This case report of a female patient born in 1994 suffering from that rare syndrome describes the interdisciplinary long-term management in one craniofacial centre over 16 years from birth to adolescence.