Van der Hoeve综合征

袁永一; 戴朴

doi:10.13201/j.issn.1001-1781.2018.16.004

Van der Hoeve综合征

袁永一,
戴朴^,

- 解放军总医院耳鼻咽喉头颈外科解放军总医院聋病分子诊断中心(北京, 100853)
基金项目:
国家重点研发计划（No：2016YFC1000706，2016YFC1000704）；国家自然科学基金面上项目（No：81371098）；国家自然科学基金重点项目（No：81730029）；解放军总医院杰青培育项目（No：2017-JQPY-001）

详细信息

通讯作者: 戴朴,E-mail:daipu301@vip.sina.com

中图分类号: R764.43

收稿日期: 2018-04-17

Van der Hoeve syndrome

YUAN Yongyi,
DAI Po^,

More Information

Corresponding author: DAI Po, E-mail: daipu301@vip.sina.com

Received Date: 17 April 2018

摘要

- 聋 /
- 耳聋-蓝巩膜-脆骨综合征 /
- 成骨不全
- deafness /
- Van der Hoeve syndrome /
- osteogenesis imperfecta

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参考文献(27)

[1]	LANGMAN C B. Improvement of bone in patients with osteogenesis iimperfecta treated with pamidronate lessons from biochemistry[J].J Clin Endocrinol Metab,2003,88:984-985.
[2]	DIGHTON A. Four Generations of Blue Sclerotics[J].Ophthalnmoscope,1912,X:188.
[3]	SILLENCE D O,RIMOIN D L,DANKS D M. Genetic heterogeneity in osteogenesis imperfecta[J].J Med Genet,1979,16:101-116.
[4]	PILLION J P,SHAPIRO J. Audiological findings in osteogenesis imperfecta[J].J Am Acad Audiol,2008,19:595-601.
[5]	BONAFE L, CORMIER-DAIRE V, HALL C, et al. Nosology and classification of genetic skeletal disorders:2015 revision[J]. Am J Med Genet A, 2015, 167A:2869-2892.
[6]	FOLKESTAD L,HALD J D,HANSEN S,et al. Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT[J]. J Bone Miner Res,2012,27:1405-1412.
[7]	EVEREKLIOGLU C,MADENCI E,BAYAZIT Y A, et al. Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera[J]. Ophthalmic Physiol Opt, 2002, 22:511-515.
[8]	ALKADHI H,RISSMANN D,KOLLIAS S S.Osteogenesis imperfecta of the temporal bone:CT and MR imaging in Van der Hoeve-de Kleyn syndrome[J]. AJNR Am J Neuroradiol, 2004,25:1106-11069.
[9]	VALLEJO-VALDEZATE L A, MARTÍN-GIL J, JOSÉ-YACAMÁN M,et al. Scanning electron microscopy images and energy-dispersive X-ray microanalysis of the stapes in otosclerosis and Van der Hoeve syndrome[J]. Laryngoscope, 2000, 110:1505-1510.
[10]	HEIMERT T L, LIN D D, YOUSEM D M. Case 48:osteogenesis imperfecta of the temporal bone[J]. Radiology,2002,224:166-170.
[11]	SHAKER J L,ALBERT C,FRITZ J,et al. Recent developments in osteogenesis imperfecta[J]. F1000Res,2015,4(F1000 Faculty Rev):681.
[12]	VAN DIJK F S,BYERS P H,DALGLEISH R,et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta[J]. Eur J Hum Genet,2012,20:11-19.
[13]	SWINNEN F K,COUCKE P J,DE PAEPE A M,et al.Osteogenesis imperfecta:the audiological phenotype lacks correlation with the genotype[J]. Orphanet J Rare Dis,2011,6:88-88.
[14]	HARBERS K, KUEHN M, DELIUS H, et al.Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice[J].Proc Natl Acad Sci U S A,1984,81:1504-1508.
[15]	SCHNIEKE A, HARBERS K, JAENISCH R. Embryonic lethal mutation in mice induced by retrovirus insertion into the α1(I) collagen gene[J]. Nature,1983,304:315-320.
[16]	LÖHLER J, TIMPL R, JAENISCH R. Embryonic lethal mutation inmouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death[J]. Cell,1984,38:597-607.
[17]	WILLING M C, DESCHENES S P, SLAYTON R L, et al.Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains[J].Am J Hum Genet,1996,59:799-809.
[18]	BONADIO J, SAUNDERS T L, TSAI E, et al.Transgenic mouse model of the mild dominant form of osteogenesis imperfecta[J].Proc Natl Acad Sci U S A,1990,87:7145-7149.
[19]	JACOBSEN C M, SCHWARTZ M A, ROBERTS H J, et al.Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I osteogenesis imperfecta[J].Bone,2016,90:127-132.
[20]	JEPSEN K J, GOLDSTEIN S A, KUHN J L,et al. Type-I collagen mutation compromises the post-yield behavior of Mov13 long bone[J].J Orthop Res,1996,14:493-499.
[21]	BONADIO J, JEPSEN K J, MANSOURA M K, et al.A murine skeletal adaptation that significantly increases cortical bonemechanical properties.Implications for human skeletal fragility[J].J Clin Invest,1993,92:1697-1705.
[22]	STANKOVIC K M,KRISTIANSEN A G,BIZAKI A,et al. Studies of otic capsule morphology and gene expression in the Mov13mouse——an animal model of type I osteogenesis imperfecta[J].Audiol Neurotol,2007,12:334-343.
[23]	GARRETSEN T J,CREMERS C W.Ear surgery in osteogenesis imperfecta.Clinical findings and short-term and long-term results[J].Arch Otolaryngol Head Neck Surg,1990,116:317-323.
[24]	SHEA J J, POSTMA D S.Findings and long-term surgical results in the hearing loss of osteogenesis imperfecta[J].Arch Otolaryngol,1982,108:467-470.
[25]	ROTTEVEEL L J,BEYNON A J,MENS L H,et al.Cochlear implantation in 3 patients with osteogenesis imperfecta:imaging, surgery and programming issues[J].Audiol Neurootol,2008,13:73-85.
[26]	ANTONIAZZI F,MONTI E,VENTURI G,et al. GH in combination with bisphosphonate treatment in osteogenesis imperfecta[J].Eur J Endocrinol,2010,163:479-487.
[27]	THOMAS I H,DIMEGLIO L A. Advances in the Classification and Treatment of Osteogenesis Imperfecta[J].Curr Osteoporos Rep,2016,14:1-9.