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Osteoglophonic dysplasia.

作者信息

Beighton P

机构信息

Department of Human Genetics, University of Cape Town Medical School, South Africa.

出版信息

J Med Genet. 1989 Sep;26(9):572-6. doi: 10.1136/jmg.26.9.572.

DOI:10.1136/jmg.26.9.572
PMID:2810341
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015696/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/abab5d7eb9f3/jmedgene00059-0031-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/9853f0f76047/jmedgene00059-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/1642dcab976b/jmedgene00059-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/ad46cee33d79/jmedgene00059-0029-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/89eab921ee26/jmedgene00059-0029-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/ece80245247e/jmedgene00059-0029-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/b122a2360f8a/jmedgene00059-0030-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/c365e270687b/jmedgene00059-0030-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/f040b8faee90/jmedgene00059-0030-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/9a30f6b46f07/jmedgene00059-0031-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/abab5d7eb9f3/jmedgene00059-0031-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/9853f0f76047/jmedgene00059-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/1642dcab976b/jmedgene00059-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/ad46cee33d79/jmedgene00059-0029-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/89eab921ee26/jmedgene00059-0029-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/ece80245247e/jmedgene00059-0029-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/b122a2360f8a/jmedgene00059-0030-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/c365e270687b/jmedgene00059-0030-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/f040b8faee90/jmedgene00059-0030-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/9a30f6b46f07/jmedgene00059-0031-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf6/1015696/abab5d7eb9f3/jmedgene00059-0031-b.jpg

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Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up.与 FGFR1 杂合突变相关的牙齿异常萌出：伴有 4 年随访的骨齿发育不良的罕见病例。

本文引用的文献

1
Osteoglophonic dwarfism.骨软骨发育不全性侏儒症
Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.
2
Osteoglophonic dwarfism in two generations.两代人中的骨软骨发育不全性侏儒症。
J Med Genet. 1983 Dec;20(6):436-40. doi: 10.1136/jmg.20.6.436.
3
Osteoglophonic dysplasia: a new case.骨颌发育不良：一例新病例。
BMC Oral Health. 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6.
4
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.骨舌发育不良：表型和影像学线索
J Pediatr Genet. 2017 Dec;6(4):247-251. doi: 10.1055/s-0037-1602816. Epub 2017 May 5.
5
FGF23 and Phosphate Wasting Disorders.成纤维细胞生长因子 23 与磷酸盐丢失性疾病。
Bone Res. 2013 Jun 28;1(2):120-32. doi: 10.4248/BR201302002. eCollection 2013 Jun.
6
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.低磷血症性佝偻病：FGF23对磷稳态调控紊乱的启示
Curr Osteoporos Rep. 2015 Apr;13(2):88-97. doi: 10.1007/s11914-015-0259-y.
7
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.儿童遗传性低磷血症性疾病及磷调节机制的演变
Rev Endocr Metab Disord. 2008 Jun;9(2):171-80. doi: 10.1007/s11154-008-9075-3. Epub 2008 Mar 26.
8
Osteoglophonic dysplasia.骨面发育不全
J Med Genet. 1990 Mar;27(3):213. doi: 10.1136/jmg.27.3.213.
9
International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.骨软骨发育不良的国际分类。国际骨骼先天性疾病工作组。
Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352.
Eur J Pediatr. 1988 Jun;147(5):547-9. doi: 10.1007/BF00441988.
4
Craniofacial dysotosis with fibrous metaphyseal deffects.
Am J Roentgenol Radium Ther Nucl Med. 1975 Jun;124(2):271-5. doi: 10.2214/ajr.124.2.271.