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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–.
PMID:37276318
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
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
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.
PMID:35399970
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
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.
PMID:33423812
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
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.
Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 17.
PMID:38884529
Ectropion.
Bedran EG, Pereira MV, Bernardes TF.
Semin Ophthalmol. 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570.
PMID:20590414
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Strømme P.
Clin Dysmorphol. 1998 Jan;7(1):61-3.
PMID:9546834
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