2026-10-18T23:15:03Zhttps://ebyu-rdlopen.rawdatalibrary.net/oai/request

oai:ebyu-rdlopen.rawdatalibrary.net:ebyu/149772026-10-18T20:41:26Zopenairedrivercom_ebyu_10000col_ebyu_10001

Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalaciaKoç, UralKarakaş, PınarBrachytelephalangicChondrodysplasia 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 unitnewbornChondrodysplasia 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.Turkish Journal of Pediatrics2017Articlehttps://rdlopen.rawdatalibrary.net/r/ebyu/14977https://doi.org/10.24953/turkjped.2017.05.0180041-4301enTurkish Journal of Pediatricsinfo:eu-repo/semantics/openAccessinfo:eu-repo/semantics/articlehttps://ebyu-rdlopen.rawdatalibrary.net/tr/items/ebyu/14977