prikaz prve stranice dokumenta Encephalocraniocutaneous Lipomatosis Without Ocular Malformations
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Scientific paper - Case study
Encephalocraniocutaneous Lipomatosis Without Ocular Malformations
Pediatric Neurology, 60 (2016); 71-74. https://doi.org/10.1016/j.pediatrneurol.2016.03.005
Radić Nišević, Jelena; Prpić, Igor; Antulov, Ronald; Sasso, Antun; Holjar-Erlić, Izidora

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

Radić Nišević, J., Prpić, I., Antulov, R., Sasso, A. & Holjar Erlić, I. (2016). Encephalocraniocutaneous Lipomatosis Without Ocular Malformations. Pediatric Neurology, 60., 71-74. doi: 10.1016/j.pediatrneurol.2016.03.005

Radić Nišević, Jelena, et al. "Encephalocraniocutaneous Lipomatosis Without Ocular Malformations." Pediatric Neurology, vol. 60, 2016, pp. 71-74. https://doi.org/10.1016/j.pediatrneurol.2016.03.005

Radić Nišević, Jelena, Igor Prpić, Ronald Antulov, Antun Sasso and Izidora Holjar Erlić. "Encephalocraniocutaneous Lipomatosis Without Ocular Malformations." Pediatric Neurology 60 (2016): 71-74. https://doi.org/10.1016/j.pediatrneurol.2016.03.005

Radić Nišević, J., et al. (2016) 'Encephalocraniocutaneous Lipomatosis Without Ocular Malformations', Pediatric Neurology, 60, pp. 71-74. doi: 10.1016/j.pediatrneurol.2016.03.005

Radić Nišević J, Prpić I, Antulov R, Sasso A, Holjar Erlić I. Encephalocraniocutaneous Lipomatosis Without Ocular Malformations. Pediatric Neurology [Internet]. 2016 [cited 2024 April 27];60:71-74. doi: 10.1016/j.pediatrneurol.2016.03.005

J. Radić Nišević, I. Prpić, R. Antulov, A. Sasso and I. Holjar Erlić, "Encephalocraniocutaneous Lipomatosis Without Ocular Malformations", Pediatric Neurology, vol. 60, pp. 71-74, 2016. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:849449. [Accessed: 27 April 2024]

Metadata
Title (english)Encephalocraniocutaneous Lipomatosis Without Ocular Malformations
AuthorJelena Radić Nišević
AuthorIgor Prpić
AuthorRonald Antulov
AuthorAntun Sasso
AuthorIzidora Holjar-Erlić
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Radiology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
Background: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis. Patient description: We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement. Conclusion: Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titlePediatric Neurology
Numberingvol. 60, pp. 71-74
p-ISSN0887-8994
DOIhttps://doi.org/10.1016/j.pediatrneurol.2016.03.005
URN:NBNurn:nbn:hr:184:849449
Publication2016
Document URLhttp://bib.irb.hr/1105503
Type of resourceText
Access conditionsInstitutional access
Terms of useLicence In copyright icon
Created on2022-02-18 09:12:53