prikaz prve stranice dokumenta First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
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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 Više autora...

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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, br. 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, br. 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, i sur.. First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism. Children [Internet]. 26.03.2023. [pristupljeno 19.12.2024.];10(4). doi: 10.3390/children10040623

N. Koruga, et al., "First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism", Children, vol. 10, br. 4, Ožujak 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:498411. [Citirano: 19.12.2024.]

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Naslov (engleski)First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
AutorNenad Koruga
AutorSilvija Pušeljić
AutorMarko Babić
AutorMario Ćuk
AutorAndrea Cvitković Roić
AutorVjenceslav Vrtarić
AutorAnamarija Soldo Koruga
AutorAlen Rončević
AutorVišnja Tomac
AutorTatjana Rotim
AutorTajana Turk
AutorDomagoj Kretić
AutorNora Pušeljić
AutorRebeka Nađ
AutorIvana Serdarušić
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaChildren
Brojčani podacivol. 10, br. 4, 623
e-ISSN2227-9067
DOIhttps://doi.org/10.3390/children10040623
URN:NBNurn:nbn:hr:105:498411
Datum objave publikacije2023-03-26
URL dokumentahttps://www.mdpi.com/2227-9067/10/4/623
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2023-10-19 08:09:19