Acrodysostosis associated with hypercalcemia

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dc.authoridKurtoglu, Selim/0000-0002-5256-0128
dc.authoridCalis, Mustafa/0000-0002-1184-0772
dc.contributor.authorKirnap, Mehmet
dc.contributor.authorCalis, Mustafa
dc.contributor.authorGokce, Cumali
dc.contributor.authorKurtoglu, Selim
dc.contributor.authorOzturk, Mustafa
dc.contributor.authorKelestimur, Fahrettin
dc.date.accessioned2024-09-18T19:50:18Z
dc.date.available2024-09-18T19:50:18Z
dc.date.issued2013
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractAn 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. All extremities appeared short with stubby fingers and toes and with broad hands and wrinkling of the dorsal skin. Chromosomal analysis showed a normal (46, XY) karyotype. X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range. Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome.en_US
dc.identifier.doi10.14310/horm.2002.1416
dc.identifier.endpage311en_US
dc.identifier.issn1109-3099
dc.identifier.issue2en_US
dc.identifier.pmid23933701en_US
dc.identifier.scopus2-s2.0-84880758886en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage309en_US
dc.identifier.urihttps://doi.org/10.14310/horm.2002.1416
dc.identifier.urihttps://hdl.handle.net/20.500.12483/7338
dc.identifier.volume12en_US
dc.identifier.wosWOS:000322940200017en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherHellenic Endocrine Socen_US
dc.relation.ispartofHormones-International Journal of Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAcrodysostosisen_US
dc.subjectAlbright's hereditary osteodystrophyen_US
dc.subjectHypercalcemiaen_US
dc.titleAcrodysostosis associated with hypercalcemiaen_US
dc.typeArticleen_US

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