Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1710397
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Pierquin Syndrome: Report of a New Case

Francisco Cammarata-Scalisi
1  Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela
,
Colin Eric Willoughby
2  Ulster University and Belfast Health and Social Care Trust, Northern Ireland, United Kingdom
,
María Angelina Lacruz- Rengel
3  Unit of Neuropediatrics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela
,
Enrico Silvio Bertini
4  Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department Neurosciences, Bambino Gesu' Children's Research Hospital, Rome, Italy
,
Michele Callea
5  Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
› Author Affiliations
Funding None.
Further Information

Publication History

03 January 2020

22 March 2020

Publication Date:
06 May 2020 (online)

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.