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Scientific paper - Case study
First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
Children, 10 (2023), 4; 623. https://doi.org/10.3390/children10040623
Koruga, Nenad; Pušeljić, Silvija; Babić, Marko; Ćuk, Mario; Cvitković Roić, Andrea; Vrtarić, Vjenceslav; Soldo Koruga, Anamarija; Rončević, Alen; Tomac, Višnja; Rotim, Tatjana; Turk, Tajana; Kretić, Domagoj; Pušeljić, Nora; Nađ, Rebeka; Serdarušić, Ivana More authors...

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Koruga, N., Pušeljić, S., Babić, M., Ćuk, M., Cvitković Roić, A., Vrtarić, V. ... Serdarušić, I. (2023). First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism. Children, 10. (4). doi: 10.3390/children10040623

Koruga, Nenad, et al. "First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism." Children, vol. 10, no. 4, 2023. https://doi.org/10.3390/children10040623

Koruga, Nenad, Silvija Pušeljić, Marko Babić, Mario Ćuk, Andrea Cvitković Roić, Vjenceslav Vrtarić, Anamarija Soldo Koruga, et al. "First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism." Children 10, no. 4 (2023). https://doi.org/10.3390/children10040623

Koruga, N., et al. (2023) 'First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism', Children, 10(4). doi: 10.3390/children10040623

Koruga N, Pušeljić S, Babić M, Ćuk M, Cvitković Roić A, Vrtarić V, and sur.. First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism. Children [Internet]. 2023 March 26 [cited 2024 April 11];10(4). doi: 10.3390/children10040623

N. Koruga, et al., "First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism", Children, vol. 10, no. 4, March 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:498411. [Accessed: 11 April 2024]

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Metadata
Title (english)First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
AuthorNenad Koruga
AuthorSilvija Pušeljić
AuthorMarko Babić
AuthorMario Ćuk
AuthorAndrea Cvitković Roić
AuthorVjenceslav Vrtarić
AuthorAnamarija Soldo Koruga
AuthorAlen Rončević
AuthorVišnja Tomac
AuthorTatjana Rotim
AuthorTajana Turk
AuthorDomagoj Kretić
AuthorNora Pušeljić
AuthorRebeka Nađ
AuthorIvana Serdarušić
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleChildren
Numberingvol. 10, no. 4, 623
e-ISSN2227-9067
DOIhttps://doi.org/10.3390/children10040623
URN:NBNurn:nbn:hr:105:498411
Publication2023-03-26
Document URLhttps://www.mdpi.com/2227-9067/10/4/623
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-10-19 08:09:19