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Journal of Pediatric Neurology 2021; 19(01): 046-049
DOI: 10.1055/s-0040-1710397
Case Report

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
› Institutsangaben Funding None.
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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


Publikationsverlauf

Eingereicht: 03. Januar 2020

Angenommen: 22. März 2020

Artikel online veröffentlicht:
06. Mai 2020

© 2020. Thieme. All rights reserved.

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