Pierquin Syndrome: Report of a New Case

Abstract

Pierquin syndrome is a rare genetic entity characterized by the association of Dandy–Walker malformation and postaxial polydactyly. The incidence is uncertain with only six cases previously reported in the literature. In this study, we reported a new case of Pierquin syndrome born from consanguineous parents, characterized by Dandy–Walker malformation, postaxial polydactyly, and congenital heart disease. The case reinforces an autosomal recessive modality of inheritance and expands the phenotypic spectrum of this rare malformation syndrome.

Keywords

Pierquin syndrome - Dandy–Walker malformation - postaxial polydactyly - congenital heart disease - autosomal recessive inheritance

Publication History

Received: 03 January 2020

Accepted: 22 March 2020

Article published online:
06 May 2020

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