Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

We 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, symmetrical...

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Autores:
Hernández-Cassis, Carlos
Vogel, Claudia K.
Hernandez, Tatiana P.
Econs, Michael J.
Iglesias, Melitza
Iglesias, Antonio
Levis, Silvina
Roos, Bernard A.
Howard, Guy A.
Iglesias Gamarra, Antonio
Tipo de recurso:
Article of journal
Fecha de publicación:
2003
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/4059
Acceso en línea:
http://hdl.handle.net/20.500.12495/4059
https://doi.org/10.1210/jc.2001-011428
Palabra clave:
Osteosclerosis
Hematopoyesis
Hiperostosis
Rights
openAccess
License
Acceso abierto
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network_acronym_str UNBOSQUE2
network_name_str Repositorio U. El Bosque
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dc.title.spa.fl_str_mv Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
dc.title.translated.spa.fl_str_mv Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
title Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
spellingShingle Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
Osteosclerosis
Hematopoyesis
Hiperostosis
title_short Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
title_full Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
title_fullStr Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
title_full_unstemmed Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
title_sort Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity
dc.creator.fl_str_mv Hernández-Cassis, Carlos
Vogel, Claudia K.
Hernandez, Tatiana P.
Econs, Michael J.
Iglesias, Melitza
Iglesias, Antonio
Levis, Silvina
Roos, Bernard A.
Howard, Guy A.
Iglesias Gamarra, Antonio
dc.contributor.author.none.fl_str_mv Hernández-Cassis, Carlos
Vogel, Claudia K.
Hernandez, Tatiana P.
Econs, Michael J.
Iglesias, Melitza
Iglesias, Antonio
Levis, Silvina
Roos, Bernard A.
Howard, Guy A.
Iglesias Gamarra, Antonio
dc.subject.decs.spa.fl_str_mv Osteosclerosis
Hematopoyesis
Hiperostosis
topic Osteosclerosis
Hematopoyesis
Hiperostosis
description We 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.
publishDate 2003
dc.date.issued.none.fl_str_mv 2003
dc.date.accessioned.none.fl_str_mv 2020-09-11T18:41:37Z
dc.date.available.none.fl_str_mv 2020-09-11T18:41:37Z
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dc.type.local.none.fl_str_mv Artículo de revista
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dc.identifier.issn.none.fl_str_mv 1945-7197
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/20.500.12495/4059
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1210/jc.2001-011428
dc.identifier.instname.spa.fl_str_mv instname:Universidad El Bosque
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional Universidad El Bosque
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identifier_str_mv 1945-7197
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url http://hdl.handle.net/20.500.12495/4059
https://doi.org/10.1210/jc.2001-011428
dc.language.iso.none.fl_str_mv eng
language eng
dc.relation.ispartofseries.spa.fl_str_mv The Journal of clinical endocrinology & metabolism, 1945-7197, Vol. 88, Nro. 6, 2003, p. 2650-2655
dc.relation.uri.none.fl_str_mv https://academic.oup.com/jcem/article/88/6/2650/2845453
dc.rights.local.spa.fl_str_mv Acceso abierto
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dc.rights.creativecommons.none.fl_str_mv 2003-06-01
rights_invalid_str_mv Acceso abierto
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2003-06-01
eu_rights_str_mv openAccess
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Endocrine Society
dc.publisher.journal.spa.fl_str_mv The Journal of clinical endocrinology & metabolism
institution Universidad El Bosque
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spelling Hernández-Cassis, CarlosVogel, Claudia K.Hernandez, Tatiana P.Econs, Michael J.Iglesias, MelitzaIglesias, AntonioLevis, SilvinaRoos, Bernard A.Howard, Guy A.Iglesias Gamarra, Antonio2020-09-11T18:41:37Z2020-09-11T18:41:37Z20031945-7197http://hdl.handle.net/20.500.12495/4059https://doi.org/10.1210/jc.2001-011428instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coapplication/pdfengEndocrine SocietyThe Journal of clinical endocrinology & metabolismThe Journal of clinical endocrinology & metabolism, 1945-7197, Vol. 88, Nro. 6, 2003, p. 2650-2655https://academic.oup.com/jcem/article/88/6/2650/2845453Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activityAutosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activityArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articlehttp://purl.org/coar/version/c_970fb48d4fbd8a85OsteosclerosisHematopoyesisHiperostosisWe 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.Acceso abiertohttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessAcceso abierto2003-06-01ORIGINALCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. Hernandez,_2003.pdfCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. Hernandez,_2003.pdfapplication/pdf362563https://repositorio.unbosque.edu.co/bitstreams/bbe7c637-ec04-4942-9644-750aaf7843f7/downloadac676eec698fd13cb45afbce67d195baMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://repositorio.unbosque.edu.co/bitstreams/8b4a8e64-1f28-4f89-8ef7-e519ea7659ae/download8a4605be74aa9ea9d79846c1fba20a33MD52THUMBNAILCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. 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