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dc.contributor.authorAdal, Erdal
dc.contributor.authorKeskindemirci, Gonca
dc.contributor.authorKorkmaz, Orhan
dc.contributor.authorKarabay, Nalan
dc.date.accessioned2021-03-04T13:54:21Z
dc.date.available2021-03-04T13:54:21Z
dc.identifier.citationKarabay N., Keskindemirci G., Adal E., Korkmaz O., "A Case of Rhizomelic Chondrodysplasia Punctata in Newborn", CASE REPORTS IN MEDICINE, 2014
dc.identifier.otherav_7ed2cf44-4bb2-4f2b-a13d-b12219cd85b4
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/86580
dc.identifier.urihttps://doi.org/10.1155/2014/879679
dc.description.abstractRhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.
dc.language.isoeng
dc.subjectTIP, GENEL & İÇECEK
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.titleA Case of Rhizomelic Chondrodysplasia Punctata in Newborn
dc.typeMakale
dc.relation.journalCASE REPORTS IN MEDICINE
dc.contributor.departmentBakirkoy Matern & Children Educ & Res Hosp , ,
dc.contributor.firstauthorID2182308


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