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...
- 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
- Palabra clave:
- Osteosclerosis
Hematopoyesis
Hiperostosis
- Rights
- openAccess
- License
- Acceso abierto
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oai:repositorio.unbosque.edu.co:20.500.12495/4059 |
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UNBOSQUE2 |
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Repositorio U. El Bosque |
repository_id_str |
|
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 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.local.none.fl_str_mv |
Artículo de revista |
dc.type.coar.none.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.driver.none.fl_str_mv |
info:eu-repo/semantics/article |
format |
http://purl.org/coar/resource_type/c_6501 |
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 |
dc.identifier.repourl.none.fl_str_mv |
repourl:https://repositorio.unbosque.edu.co |
identifier_str_mv |
1945-7197 instname:Universidad El Bosque reponame:Repositorio Institucional Universidad El Bosque repourl:https://repositorio.unbosque.edu.co |
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 |
dc.rights.accessrights.none.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess Acceso abierto |
dc.rights.creativecommons.none.fl_str_mv |
2003-06-01 |
rights_invalid_str_mv |
Acceso abierto http://purl.org/coar/access_right/c_abf2 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 |
bitstream.url.fl_str_mv |
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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. Hernandez,_2003.pdf.jpgCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. Hernandez,_2003.pdf.jpgimage/jpeg5775https://repositorio.unbosque.edu.co/bitstreams/72555bed-d42b-425b-a09c-367a0139e0c6/download7210a811635d1799e7c05fee5d259be7MD53TEXTCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. Hernandez,_2003.pdf.txtCarlos Hernandez-Cassis, Claudia K. Vogel, Tatiana P. 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