Erzincan Binali Yıldırım ÜniversitesiErzincan Binali Yıldırım ÜniversitesiAçık Erişim Arşivi · RDL Open

Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia

ArticleAçık Erişim

Özet

Chondrodysplasia punctata (CDP) is a heterogeneous disease with multiple syndromic types and characterization of the CDP subtype is important for prognostic purposes. The aim of this study is to provide information about brachytelephalangic CDP, discuss its radiographic findings and emphasize the importance of cervical spine findings. Physicians must be aware of the potentially serious complications of CDP especially its cervical spine findings. In order to prevent morbidity and mortality, early imaging with CT and MRI is recommended. © 2017, Turkish Journal of Pediatrics. All rights reserved.

Anahtar Kelimeler

BrachytelephalangicChondrodysplasia punctataMRIMyelomalaciaGenetic Diseases, X-LinkedHumansInfant, NewbornInfant, PrematureMagnetic Resonance ImagingMaleTomography, X-Ray Computedankylosing hyperostosisaortic regurgitationArticlebilateral hearing lossbrachytelephalangic chondrodysplasia punctatacase reportchondrodysplasiaclinical articlecomputer assisted tomographydecompression surgerydevelopmental delayface dysmorphiaforamen magnumhumankaryotypemacrocephalymuscle hypotonianeonatal intensive care unitnewborn
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Tam Kayıt
AlanDeğerDil
dc.contributor.authorKoç, Ural
dc.contributor.authorKarakaş, Pınar
dc.date.accessioned2026-10-18T20:29:46.626558894Z
dc.date.available2026-10-18T20:29:46.626558894Z
dc.date.issued2017
dc.description.abstractChondrodysplasia punctata (CDP) is a heterogeneous disease with multiple syndromic types and characterization of the CDP subtype is important for prognostic purposes. The aim of this study is to provide information about brachytelephalangic CDP, discuss its radiographic findings and emphasize the importance of cervical spine findings. Physicians must be aware of the potentially serious complications of CDP especially its cervical spine findings. In order to prevent morbidity and mortality, early imaging with CT and MRI is recommended. © 2017, Turkish Journal of Pediatrics. All rights reserved.
dc.identifier.doi10.24953/turkjped.2017.05.018
dc.identifier.endpage609
dc.identifier.issn0041-4301
dc.identifier.issue5
dc.identifier.pmid29745127
dc.identifier.scopus2-s2.0-85046248525
dc.identifier.startpage604
dc.identifier.urihttps://rdlopen.rawdatalibrary.net/r/ebyu/14977
dc.identifier.volume59
dc.identifier.wosWOS:000438380400018
dc.language.isoen
dc.publisherTurkish Journal of Pediatrics
dc.relation.ispartofTurkish Journal of Pediatrics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBrachytelephalangic
dc.subjectChondrodysplasia punctata
dc.subjectMRI
dc.subjectMyelomalacia
dc.subjectGenetic Diseases, X-Linked
dc.subjectHumans
dc.subjectInfant, Newborn
dc.subjectInfant, Premature
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectTomography, X-Ray Computed
dc.subjectankylosing hyperostosis
dc.subjectaortic regurgitation
dc.subjectArticle
dc.subjectbilateral hearing loss
dc.subjectbrachytelephalangic chondrodysplasia punctata
dc.subjectcase report
dc.subjectchondrodysplasia
dc.subjectclinical article
dc.subjectcomputer assisted tomography
dc.subjectdecompression surgery
dc.subjectdevelopmental delay
dc.subjectface dysmorphia
dc.subjectforamen magnum
dc.subjecthuman
dc.subjectkaryotype
dc.subjectmacrocephaly
dc.subjectmuscle hypotonia
dc.subjectneonatal intensive care unit
dc.subjectnewborn
dc.titleRadiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia
dc.typeArticle
dspace.entity.typePublication
rdl.citation.scopus1
rdl.citation.wos1
rdl.oa.statusgold
rdl.source.indexSCOPUS
rdl.source.indexWOS
rdl.wos.indexScience Citation Index Expanded (SCI-EXPANDED)
rdl.wos.indexConference Proceedings Citation Index - Science (CPCI-S)