Concomitance of types D and E brachydactyly: a case report

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dc.authoridOzdemir, Filiz/0000-0001-9421-0233
dc.authorwosidOzdemir, Filiz/GXW-2763-2022
dc.contributor.authorKoca, T. Tulay
dc.contributor.authorOzdemir, F. Ciledag
dc.date.accessioned2024-08-04T20:41:45Z
dc.date.available2024-08-04T20:41:45Z
dc.date.issued2015
dc.departmentİnönü Üniversitesien_US
dc.description.abstractHere, we present of a 35-year old female diagnosed with an overlapping form of non-syndromic brachydactyly types D and E with phenotypic and radiological signs. There was observed to be shortening in the right hand metacarpal of 3rd and 4th fingers and left hand metacarpal of 4th finger and left foot metatarsal of 4th toe. There was also shortening of the distal phalanx of the thumbs and thoracic kyphosis. The syndromic form of brachydactyly type E is firmly associated with pseudo-hypopthyroidism as resistance to pthyroid hormone is the most prominent feature. As the patient had normal stature, normal laboratory parameters and no psychomotor developmental delay, the case was classified as isolated E type brachydactyly.en_US
dc.identifier.endpage4552en_US
dc.identifier.issn1128-3602
dc.identifier.issue23en_US
dc.identifier.pmid26698251en_US
dc.identifier.scopus2-s2.0-84966289976en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage4549en_US
dc.identifier.urihttps://hdl.handle.net/11616/97307
dc.identifier.volume19en_US
dc.identifier.wosWOS:000369540900015en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherVerduci Publisheren_US
dc.relation.ispartofEuropean Review For Medical and Pharmacological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBrachydactylyen_US
dc.subjectSkeletal disordersen_US
dc.subjectPseudo-hypoparathyroidismen_US
dc.titleConcomitance of types D and E brachydactyly: a case reporten_US
dc.typeArticleen_US

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