Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Generalized osteosclerosis"'
Autor:
Vinieth N. Bijanki, Lien Trinh, Steven Mumm, Michael P. Whyte, William H. McAlister, Gary S. Gottesman, Emilina Lim, Angela Nenninger, David Buchbinder, Matthew G Boden, Deborah J. Veis
Publikováno v:
Journal of Bone and Mineral Research. 33:2071-2080
Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed2bb45082a0741a45db3ea1ac9be4e
https://doi.org/10.1002/jbmr.3532
https://doi.org/10.1002/jbmr.3532
Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 237-243 (2017)
Malignant infantile autosomal recessive osteopetrosis (ARO) is rare hereditable skeletal dysplasia characterized by a generalized osteosclerosis. ARO usually runs a fatal course in early childhood if untreated. Serious complications can arise from bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf564c7fdb687678a21227940a879d0
Publikováno v:
International Journal of Orthopaedics Sciences. 4:77-79
Osteopetrosis is a rare hereditary disease which is characterized by increased bone density and it usually presents with increased bone mass and generalized osteosclerosis. We report the case of an adult patient with marble stone- osteopetrotic subtr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cef219e049d49a93a87f2fa173088e00
https://doi.org/10.22271/ortho.2018.v4.i1b.12
https://doi.org/10.22271/ortho.2018.v4.i1b.12
Publikováno v:
American Journal of Medical Genetics Part A
Volume 179
Volume 179
Raine syndrome is a rare, autosomal recessive, osteosclerotic bone dysplasia due to pathogenic variants in FAM20C. The clinical phenotype is characterized by generalized osteosclerosis affecting all bones, cerebral calcifications, and craniofacial dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa35c52db469860e2a0380cb4b2e4595
https://www.bib.irb.hr/1110897
https://www.bib.irb.hr/1110897
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger
Publikováno v:
Pediatric Radiology. 45:1239-1243
We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c16da877424c1e729cf9df6b99a8596
https://doi.org/10.1007/s00247-015-3292-1
https://doi.org/10.1007/s00247-015-3292-1
Autor:
Naim M. Maalouf, Katherine Peicher
Publikováno v:
Calcified tissue international. 101(5)
Skeletal fluorosis (SF) is an osteosclerotic metabolic bone disorder caused by excessive ingestion or inhalation of fluoride. SF is extremely rare in developed countries. We report a case of SF due to inhalational abuse from a fluoride-containing air
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37e99f58bc4758879fd80fbabdd8ea5
https://pubmed.ncbi.nlm.nih.gov/28725909
https://pubmed.ncbi.nlm.nih.gov/28725909
Autor:
Phennapha Klangsinsirikul, Paul T. Sharpe, Saranya Thawanaphong, Witchapong Issarangporn, Piranit Nik Kantaputra, Chayarop Supanchart, Atsushi Ohazama
Publikováno v:
American Journal of Medical Genetics Part A. :909-916
Infantile malignant autosomal recessive osteopetrosis (ARO; OMIM 259700) has been reported to be associated with mutations in TCIRG1, CLCN7, or OSTM1. ARO caused by homozygous (or compound heterozygous) mutations in CLCN7, as described here, is usual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6245336e3d09e90088e1e243204cfabc
https://doi.org/10.1002/ajmg.a.35264
https://doi.org/10.1002/ajmg.a.35264
Publikováno v:
Iranian Journal of Radiology
Hyperparathyroidism is an endocrine abnormality that frequently causes diffuse osteopenia in the bones. Osteosclerosis is a rare phenomenon in adults with primary hyperparathyroidism since the usual skeletal manifestation is generalized osteopenia. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64fb0457c3fbaf5fa7feb2a8c9c625c9
http://europepmc.org/articles/PMC4393636
http://europepmc.org/articles/PMC4393636
Autor:
Mohammed Zain Seidahmed, Anas M. Alazami, Omer Bashir Abdelbasit, Khalid Al Hussein, Abeer M. Miqdad, Omar Abu-Sa'da, Tareq Mustafa, Sarah Bahjat, Fowzan S. Alkuraya
Publikováno v:
American journal of medical genetics. Part A. (10)
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcificat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4eaf48fc5060fe42eacddaf98b14ea1
https://pubmed.ncbi.nlm.nih.gov/25974638
https://pubmed.ncbi.nlm.nih.gov/25974638
Publikováno v:
American Journal of Medical Genetics. 86:274-277
We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and gener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8c44c74a2780f6792195cadfd02d323
https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<274::aid-ajmg15>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<274::aid-ajmg15>3.0.co