A Seven Years Old Girl with Klippel-Feil Syndrome, Bilateral Sprengel Deformity, Congenital Unilateral Renal Agenesis and A Heterozygous Mutation M680I(G > C)in The MEFV Gene

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dc.contributor.authorEröz, Recep
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorBolu, Semih
dc.contributor.authorYüce, Hüseyin
dc.date.accessioned2020-04-30T22:38:52Z
dc.date.available2020-04-30T22:38:52Z
dc.date.issued2017
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000419627200015en_US
dc.description.abstractKFS is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. We presented at a female KFS case within bilateral Sprengel deformity, congenital unilateral renal agenesis and correlation by MEFV gene mutation. Physical examination, routin biochemical evaluation, radiological evaluation of the case were performed and family history was taken. Additionally, chromosomal analysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were conducted. She had short neck, limitation of the movement of head and neck and a low posterior hairline, bilateral sprengel deformity, mild scoliosis and congenital unilateral renal agenesis. Also, she had partial vertebral body fusion. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5cm long in central of the spinal cord and normal caryotype. She had M680I(G>C) mutation. The patient analysis result was normal for GDF6 gene. To our knowledge, this is the first reported case together with KFS, bilateral Sprengel deformity, congenital unilateral renal agenesis and FMF mutation. Due to neurological deficits can be seen after minor trauma in cases with KFS, she should be careful and avoid from heavy exercise. She had cysts in her liver and spleen and had renal failure her family history. Thus the case has been evaluated for policystic kidney disorder. Additionally, she had MEFV gene mutation, she should be followed for kidney failure during her life for amyloidosis risk.en_US
dc.identifier.doi10.18521/ktd.300827en_US
dc.identifier.endpage170en_US
dc.identifier.issn1309-3878
dc.identifier.issue2en_US
dc.identifier.startpage167en_US
dc.identifier.urihttps://doi.org/10.18521/ktd.300827
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2491
dc.identifier.volume9en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherDuzce Univen_US
dc.relation.ispartofKonuralp Tip Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectKlippel-Feil Syndromeen_US
dc.subjectFMFen_US
dc.subjectBilateral Sprengel Deformityen_US
dc.subjectFusion of Cervical Vertebraeen_US
dc.subjectGDF6 Geneen_US
dc.titleA Seven Years Old Girl with Klippel-Feil Syndrome, Bilateral Sprengel Deformity, Congenital Unilateral Renal Agenesis and A Heterozygous Mutation M680I(G > C)in The MEFV Geneen_US
dc.typeArticleen_US

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