Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl

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dc.contributor.authorCogulu O.
dc.contributor.authorGunduz C.
dc.contributor.authorKaraca E.
dc.contributor.authorOnay H.
dc.contributor.authorSuperti-Furga A.
dc.contributor.authorÖzkınay F.
dc.date.accessioned2019-10-26T23:59:35Z
dc.date.available2019-10-26T23:59:35Z
dc.date.issued2007
dc.departmentEge Üniversitesien_US
dc.description.abstractVertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature.en_US
dc.identifier.endpage83en_US
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid17515303en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage77en_US
dc.identifier.urihttps://hdl.handle.net/11454/21420
dc.identifier.volume18en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDuane anomalyen_US
dc.subjectDwarfismen_US
dc.subjectGenetic evaluationen_US
dc.subjectHearten_US
dc.subjectSpineen_US
dc.titleDuane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girlen_US
dc.typeArticleen_US

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