A case of diastrophic dysplasia associated with mega cysterna magna

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dc.authorwosidDuran, Rıdvan/C-1065-2015
dc.authorwosidTüysüz, Beyhan/AAN-4858-2020
dc.contributor.authorDuran, Ridvan
dc.contributor.authorVatansever, Uelfet
dc.contributor.authorAladag, Nuekhet
dc.contributor.authorAcunas, Betuel
dc.contributor.authorTuysuz, Beyhan
dc.date.accessioned2024-06-12T11:09:12Z
dc.date.available2024-06-12T11:09:12Z
dc.date.issued2007
dc.departmentTrakya Üniversitesien_US
dc.description.abstractSkeletal dysplasias comprise a large group of hereditary disorders characterized by abnormal growth, short stature and malformations and deformations of bone and cartilage. Diastrophic dysplasia is a skeletal-disorder characterized by short stature, foot and spinal deformities, hitchhiker's thumb and ear abnormalities. Internal organs develop normally. The physical examination of the newborn referred to our hospital for multiple abnormalities revealed a poor general condition with cyanosis, disproportionate short stature, large front fontanel, short neck, misshapen upper ear and 'cauliflower' deformity, cleft palate, hitchhiker's thumb, long and slim fingers except the thumb, proximally located toes, flexion contractures in the large joints, bilateral talipes equinovarus and left scrotal hernia. Mega cysterna magna was demonstrated in,the posterior fossa in the cranial tomography. With these clinical and radiological findings, the newborn was diagnosed as diastrophic dysplasia. The infant was discharged on day 19 after genetic counseling to the family and was to be followed up by the newborn outpatient clinic.en_US
dc.identifier.endpage161en_US
dc.identifier.issn1301-3149
dc.identifier.issue2en_US
dc.identifier.startpage158en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22715
dc.identifier.volume24en_US
dc.identifier.wosWOS:000257676900013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherAves Yayincilik, Ibrahim Karaen_US
dc.relation.ispartofTrakya Universitesi Tip Fakultesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNewbornen_US
dc.subjectDiastrophic Dysplasiaen_US
dc.subjectMega Cysternaen_US
dc.subjectMagnaen_US
dc.subjectHitchhiker's Thumben_US
dc.subjectVarianten_US
dc.titleA case of diastrophic dysplasia associated with mega cysterna magnaen_US
dc.typeArticleen_US

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