A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation

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dc.authorid0000-0003-3703-9518en_US
dc.authorid0000-0002-2408-5294en_US
dc.contributor.authorTuğ, Esra
dc.contributor.authorLoeys, B.
dc.contributor.authorDe Paepe, A.
dc.contributor.authorAydın, H.
dc.contributor.authorGideroğlu, Kaan
dc.date.accessioned2021-06-23T19:27:20Z
dc.date.available2021-06-23T19:27:20Z
dc.date.issued2010
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractA Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation: We describe a 2-years-old male patient with skeletal, neurological, cardiovascular, and connective tissue anomalies. Skeletal anomalies included pectus excavatum, hammer toes and hallux valgus and camptodactyly. The characteristic craniofacial findings of hypertelorism, down slanting palpebral fissures, strabismus, ptosis of eyelids, bifid uvula, high-arched palate and retrognathia were present. The proband has been operated on twice for bilateral inguinal hernia and several times for his foot deformities. Psychomotor development was retarded. At present, echocardiographic findings show aortic root dilation. The patient has important characteristics of Loeys-Dietz syndrome (LDS). Direct sequencing analysis of the transforming growth factor beta receptor I and II (TGFBR1 and 2) genes was performed and was demonstrated heterozygous missense mutation of the TGFBR2 gene in the patient, which confirms the diagnosis of LDS. This is the first Turkish patient with typical clinical signs of LDS. This report also illustrates that LDS and Shprintzen-Goldberg syndrome (SGS) have some common clinical characteristics.en_US
dc.identifier.endpage232en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid20681224en_US
dc.identifier.scopus2-s2.0-77954748239en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage225en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/6793
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-77954748239&partnerID=40&md5=a062087fa41346889a70f094300dc852
dc.identifier.volume21en_US
dc.identifier.wosWOS:000280056200009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorTuğ, Esra
dc.institutionauthorLoeys, B.
dc.institutionauthorDe Paepe, A.
dc.institutionauthorAydın, H.
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLoeys-Dietz Syndromeen_US
dc.subjectShprintzen-Goldberg Syndromeen_US
dc.subjectAortic Root Dilationen_US
dc.subjectCamptodactylyen_US
dc.subjectTransforming Growth Factor-beta Receptoren_US
dc.titleA Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutationen_US
dc.typeArticleen_US

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