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Craniodiaphyseal dysplasia.

作者信息

Brueton L A, Winter R M

机构信息

Kennedy Galton Centre, Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex.

出版信息

J Med Genet. 1990 Nov;27(11):701-6. doi: 10.1136/jmg.27.11.701.

DOI:10.1136/jmg.27.11.701
PMID:2277386
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017262/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/9d3ceec11257/jmedgene00049-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/fc9d558164fb/jmedgene00049-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/99683b6ace3d/jmedgene00049-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/9fe334ab573d/jmedgene00049-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/9d3ceec11257/jmedgene00049-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/fc9d558164fb/jmedgene00049-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/99683b6ace3d/jmedgene00049-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/9fe334ab573d/jmedgene00049-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df4a/1017262/9d3ceec11257/jmedgene00049-0041-c.jpg

相似文献

1
Craniodiaphyseal dysplasia.颅骨骨干发育异常
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2
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Unusual audiological findings in cranial metaphyseal dysplasia.颅骨干骺端发育异常中的异常听力学表现。
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A patient with Camurati-Engelmann disease presenting bilateral TMJ ankylosis: A case report.一名患有卡穆拉蒂-恩格尔曼病的患者出现双侧颞下颌关节强直：病例报告。
Int J Surg Case Rep. 2020;74:144-147. doi: 10.1016/j.ijscr.2020.08.006. Epub 2020 Aug 19.
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Camurati-Engelmann Disease.卡姆鲁蒂-恩格尔曼病。
Calcif Tissue Int. 2019 May;104(5):554-560. doi: 10.1007/s00223-019-00532-1. Epub 2019 Feb 5.
3
Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.与非典型颅骨干发育异常相关的骨折：一名男孩及其母亲的病例报告

本文引用的文献

1
Hyperostosis corticalis generalisata. Report of seven cases.全身性骨皮质增生症。7例报告。
Am J Med. 1962 Sep;33:387-97. doi: 10.1016/0002-9343(62)90235-8.
2
On Paget's disease with leontiasis ossea and hypothyreosis, starting in early childhood.关于佩吉特病合并骨性狮面及甲状腺功能减退症，始于儿童早期。
Ann Paediatr. 1962;199:393-408.
3
[Camurati-Engelmann disease (clinical and radiological contribution)].[卡姆拉蒂-恩格尔曼病（临床与影像学表现）]
Clinics (Sao Paulo). 2012 Dec;67(12):1505-9. doi: 10.6061/clinics/2012(12)26.
4
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.常染色体显性颅面骨发育不全中信号肽结构域 SOST 突变的鉴定。
Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9.
5
MR imaging features of craniodiaphyseal dysplasia.
Pediatr Radiol. 2004 Feb;34(2):167-70. doi: 10.1007/s00247-003-1037-z. Epub 2003 Oct 7.
6
An unusual form of blink reflex induced by pressing on a frontal burr hole.按压额部骨孔诱发的一种异常形式的瞬目反射。
Br J Ophthalmol. 1994 Jun;78(6):503-4. doi: 10.1136/bjo.78.6.503.
7
Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia.颅骨骨干发育异常中的鼻泪管阻塞与面骨组织病理学
Br J Ophthalmol. 1994 Jun;78(6):501-3. doi: 10.1136/bjo.78.6.501.
8
Craniotubular bone disorders.颅骨管状骨疾病。
Pediatr Radiol. 1994;24(6):392-406. doi: 10.1007/BF02011904.
Minerva Pediatr. 1972 May 12;24(17):697-701.
4
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.卡姆拉蒂-恩格尔曼病。遗传学与临床表现并文献综述
J Med Genet. 1972 Mar;9(1):73-85. doi: 10.1136/jmg.9.1.73.
5
Craniodiaphyseal dysplasia, a disease or group of diseases?颅骨骨干发育异常，是一种疾病还是一组疾病？
J Can Assoc Radiol. 1974 Mar;25(1):22-33.
6
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia.
Clin Genet. 1986 Nov;30(5):381-91. doi: 10.1111/j.1399-0004.1986.tb01895.x.
7
Craniodiaphyseal dysplasia. Partial suppression of osteoblastic activity in the severe progressive form with calcitonin therapy.颅骨骨干发育异常。在严重进行性形式中，降钙素治疗可部分抑制成骨细胞活性。
J R Nav Med Serv. 1987 Summer;73(2):81-93.
8
[A case of craniodiaphyseal dysplasia].[一例颅骨骨干发育异常病例]
No To Hattatsu. 1989 Jan;21(1):69-73.
9
[Unusual case of hyperostosis of the type "cranio-diaphyseal dysplasia"].["颅骨干发育异常型骨肥厚的罕见病例"]
Minerva Pediatr. 1977 Jul 14;29(23):1485-97.
10
[Hydrocephalus and craniodiaphyseal dysplasia (author's transl)].
Radiol Med. 1979 Apr;65(4):249-52.