Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

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dc.contributor.authorHernández-Cassis, Carlos
dc.contributor.authorVogel, Claudia K.
dc.contributor.authorHernandez, Tatiana P.
dc.contributor.authorEcons, Michael J.
dc.contributor.authorIglesias, Melitza
dc.contributor.authorIglesias, Antonio
dc.contributor.authorLevis, Silvina
dc.contributor.authorRoos, Bernard A.
dc.contributor.authorHoward, Guy A.
dc.contributor.authorIglesias Gamarra, Antonio
dc.date.accessioned2020-09-11T18:41:37Z
dc.date.available2020-09-11T18:41:37Z
dc.date.issued2003
dc.description.abstractenglishWe studied eight affected and four unaffected individuals from a Colombian family with autosomal dominant diffuse high bone density. Affected individuals have normal, proportional height and high serum alkaline phosphatase activity. Radiographically, affected members exhibit generalized, symmetrically diffuse endosteal hyperostosis of the long bones and skull with narrow medullary cavities and loss of the diploë, respectively. There is no periosteal reaction or decreased hematopoiesis. Furthermore, osteosclerosis affects vertebral bodies, ribs, pelvis, mandible, clavicles, and scapulae. Bone mineral density is 2.4–7.3 SD above the mean for age and gender in affected individuals. Affected vs. unaffected individuals’ Z-scores were (mean ± SD) 5.03 ± 1.77 vs. 0.08 ± 0.97, respectively, P = 0.0004). Three affected subjects older than 40 yr old lost bone mass in 6 yr. No dysmorphism, abnormal facial features, bone fractures, or cranial nerve involvement was found. The pattern of inheritance, the absence of asymmetries and malformations, the increased serum alkaline phosphatase, the peak bone mass that appears to decrease physiologically with age, and the involvement of cortical and trabecular bone suggest a new variant of hyperostosis/osteosclerosis that affects the entire skeleton.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1210/jc.2001-011428
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn1945-7197
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/4059
dc.language.isoeng
dc.publisherEndocrine Societyspa
dc.publisher.journalThe Journal of clinical endocrinology & metabolismspa
dc.relation.ispartofseriesThe Journal of clinical endocrinology & metabolism, 1945-7197, Vol. 88, Nro. 6, 2003, p. 2650-2655spa
dc.relation.urihttps://academic.oup.com/jcem/article/88/6/2650/2845453
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2003-06-01
dc.rights.localAcceso abiertospa
dc.subject.decsOsteosclerosisspa
dc.subject.decsHematopoyesisspa
dc.subject.decsHiperostosisspa
dc.titleAutosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activityspa
dc.title.translatedAutosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activityspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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