Auralcephalosyndactyly: A new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

Abstract

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild cranio-synostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. 1 In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.