VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient

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dc.contributor.authorVatansever, Ü
dc.contributor.authorBasaran, ÜN
dc.contributor.authorGüzel, A
dc.contributor.authorAcunas, B
dc.contributor.authorBalci, S
dc.date.accessioned2024-06-12T11:17:00Z
dc.date.available2024-06-12T11:17:00Z
dc.date.issued2004
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThe association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) with hydrocephalus (VACTERL-H) has recently been described. Both X linked and autosomal recessive forms have been described which are mostly indistinguishable clinically. Here we report a female newborn infant with hydrocephalus detected antenatally, oesophageal atresia with tracheo-oesophageal fistula, anal atresia, renal and vertebral anomalies, and triphalangeal thumb as well as primary hypothyroidism.en_US
dc.identifier.doi10.1097/01.mcd.0000110535.02258.69
dc.identifier.endpage30en_US
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue1en_US
dc.identifier.pmid15127761en_US
dc.identifier.scopus2-s2.0-2442715445en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage29en_US
dc.identifier.urihttps://doi.org/10.1097/01.mcd.0000110535.02258.69
dc.identifier.urihttps://hdl.handle.net/20.500.14551/24540
dc.identifier.volume13en_US
dc.identifier.wosWOS:000220667500007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectVACTERL-Hen_US
dc.subjectOesophageal Atresiaen_US
dc.subjectTracheo-Oesophageal Fistulaen_US
dc.subjectAnal Atresiaen_US
dc.subjectTriphalangeal Thumben_US
dc.subjectHydrocephalusen_US
dc.subjectPrimary Hypothyroidismen_US
dc.subjectHydrocephalusen_US
dc.subjectAssociationen_US
dc.subjectBrothersen_US
dc.subjectFamilyen_US
dc.titleVACTERL-H with triphalangeal thumb and hypothyroidism in a female patienten_US
dc.typeArticleen_US

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