Pierquin Syndrome: Report of a New Case

Francisco Cammarata-Scalisi; Colin Eric Willoughby; María Angelina Lacruz- Rengel; Enrico Silvio Bertini; Michele Callea

doi:10.1055/s-0040-1710397

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

¹Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela

,

Colin Eric Willoughby

²Ulster University and Belfast Health and Social Care Trust, Northern Ireland, United Kingdom

,

María Angelina Lacruz- Rengel

³Unit of Neuropediatrics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela

,

Enrico Silvio Bertini

⁴Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department Neurosciences, Bambino Gesu' Children's Research Hospital, Rome, Italy

,

Michele Callea

⁵Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

› Institutsangaben

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

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Referenzen

References
1 Pierquin G, Deroover J, Levi S, Masson T, Hayez-Delatte F, Van Regemorter N. Dandy–Walker malformation with postaxial polydactyly: a new syndrome?. Am J Med Genet 1989; 33 (04) 483-484
2 Passalacqua CA, Villegas VP, Aracena MI, Mellado CX. Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome. Clin Dysmorphol 2013; 22 (02) 51-53
3 Zamora EA, Ahmad T. Dandy Walker malformation. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2020
4 Stambolliu E, Ioakeim-Ioannidou M, Kontokostas K, Dakoutrou M, Kousoulis AA. The most common comorbidities in Dandy-Walker syndrome patients: a systematic review of case reports. J Child Neurol 2017; 32 (10) 886-902
5 Egger J, Bellman MH, Ross EM, Baraitser M. Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry 1982; 45 (08) 737-739
6 Cavalcanti DP, Salomão MA. Dandy-Walker malformation with postaxial polydactyly: further evidence for autosomal recessive inheritance. Am J Med Genet 1999; 85 (02) 183-184
7 Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clin Dysmorphol 2013; 22 (03) 109-114
8 Havle A, Shedge S, Malashetti S, Jain V. Oro-facial-digital syndrome type II with otolaryngological manifestations. J Oral Maxillofac Pathol 2015; 19 (02) 266
9 Sargar KM, Radmanesh A, Herman TE, Siegel MJ. 3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. J Perinatol 2015; 35 (03) 233-234
10 Akhtar A, Hassan SA, Falah NU, Khan M, Sheikh FN. Joubert syndrome: a rare radiological case. Cureus 2019; 11 (12) e6410
11 Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM. Meckel syndrome: clinical and mutation profile in six fetuses. Clin Genet 2019; 96 (06) 560-565
12 Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. J Neuropathol Exp Neurol 2008; 67 (08) 750-762