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名词信息
中 文 名:
先天性睑裂狭小
英 文 名:
congenital blepharophimosis
中文又称:
睑裂狭小
中文曾称:
名词来源:
所属专业:
眼科
所属类别:
疾病诊断名词
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Pubmed相关的文献
congenital blepharophimosis
相关文献:
Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
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Wakayama Symposium: Notch-FoxL2-alpha-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
Liu CY.
Ocul Surf. 2012 Oct;10(4):221-3. doi: 10.1016/j.jtos.2012.07.003. Epub 2012 Jul 25.
PMID:23084143
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S.
Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27.
PMID:38884729
Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients.
Mehta A, Naik M, Agarwal S.
Taiwan J Ophthalmol. 2021 Apr 17;12(1):82-87. doi: 10.4103/tjo.tjo_6_21. eCollection 2022 Jan-Mar.
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Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Delle Fave M, Cordonnier M, Polyanina M, Kallay O.
J Fr Ophtalmol. 2021 Mar;44(3):e159-e161. doi: 10.1016/j.jfo.2020.06.007. Epub 2021 Jan 8.
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A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
Gupta N, Ganesh S, Singla P, Kumar S.
Eur J Ophthalmol. 2021 Mar;31(2):NP8-NP11. doi: 10.1177/1120672119886427. Epub 2019 Nov 22.
PMID:31752537
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N.
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van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.
Guerra D, Sanchez O, Richieri-Costa A.
Am J Med Genet A. 2005 Aug 1;136A(4):377-80. doi: 10.1002/ajmg.a.30665.
PMID:15971261
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.
Chou WS, Shiao YM, Chen JS, Tsauer JC, Chang YF, Chiu YH, Hsiao CH.
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Ectropion.
Bedran EG, Pereira MV, Bernardes TF.
Semin Ophthalmol. 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570.
PMID:20590414
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