Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature

2013
journal article
article
10
dc.abstract.enBackground: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. Case Report: This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Conclusions: Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.pl
dc.contributor.authorJurkiewicz, Elżbietapl
dc.contributor.authorMarcinska, Beatapl
dc.contributor.authorBothur-Nowacka, Joannapl
dc.contributor.authorDobrzanska, Annapl
dc.date.accessioned2017-09-05T07:28:20Z
dc.date.available2017-09-05T07:28:20Z
dc.date.issued2013pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.additionalBibliogr. s. 63-64pl
dc.description.number2pl
dc.description.physical57-64pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume78pl
dc.identifier.doi10.12659/PJR.883947pl
dc.identifier.eissn1899-0967pl
dc.identifier.issn1733-134Xpl
dc.identifier.urihttp://ruj.uj.edu.pl/xmlui/handle/item/43810
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska*
dc.rights.licenceCC-BY-NC-ND
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode*
dc.share.typeotwarte czasopismo
dc.subject.enchondrodysplasia punctatapl
dc.subject.enskeletal dysplasiapl
dc.subject.ennewbornpl
dc.subject.encongenital malformationpl
dc.subtypeArticlepl
dc.titleClinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literaturepl
dc.title.journalPolish Journal of Radiologypl
dc.typeJournalArticlepl
dspace.entity.typePublication
dc.abstract.enpl
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. Case Report: This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Conclusions: Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.
dc.contributor.authorpl
Jurkiewicz, Elżbieta
dc.contributor.authorpl
Marcinska, Beata
dc.contributor.authorpl
Bothur-Nowacka, Joanna
dc.contributor.authorpl
Dobrzanska, Anna
dc.date.accessioned
2017-09-05T07:28:20Z
dc.date.available
2017-09-05T07:28:20Z
dc.date.issuedpl
2013
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.additionalpl
Bibliogr. s. 63-64
dc.description.numberpl
2
dc.description.physicalpl
57-64
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
78
dc.identifier.doipl
10.12659/PJR.883947
dc.identifier.eissnpl
1899-0967
dc.identifier.issnpl
1733-134X
dc.identifier.uri
http://ruj.uj.edu.pl/xmlui/handle/item/43810
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska
dc.rights.licence
CC-BY-NC-ND
dc.rights.uri*
http://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode
dc.share.type
otwarte czasopismo
dc.subject.enpl
chondrodysplasia punctata
dc.subject.enpl
skeletal dysplasia
dc.subject.enpl
newborn
dc.subject.enpl
congenital malformation
dc.subtypepl
Article
dc.titlepl
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature
dc.title.journalpl
Polish Journal of Radiology
dc.typepl
JournalArticle
dspace.entity.type
Publication
Affiliations

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