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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).

作者信息

Oley C, Baraitser M

机构信息

Clinical Genetics Unit, Hospitals for Sick Children, London.

出版信息

J Med Genet. 1988 Jan;25(1):47-51. doi: 10.1136/jmg.25.1.47.

DOI:10.1136/jmg.25.1.47
PMID:3270326
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015423/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/37e83f89d3df/jmedgene00063-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/c3626d3606e4/jmedgene00063-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/f24520b84eee/jmedgene00063-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/a4dd422024f7/jmedgene00063-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/3ce454e5bcda/jmedgene00063-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/5675cd3373c2/jmedgene00063-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/37e83f89d3df/jmedgene00063-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/c3626d3606e4/jmedgene00063-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/f24520b84eee/jmedgene00063-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/a4dd422024f7/jmedgene00063-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/3ce454e5bcda/jmedgene00063-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/5675cd3373c2/jmedgene00063-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5eb/1015423/37e83f89d3df/jmedgene00063-0058-c.jpg

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1
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).睑裂狭小、上睑下垂、内眦赘皮综合征（BPES综合征）。
J Med Genet. 1988 Jan;25(1):47-51. doi: 10.1136/jmg.25.1.47.
2
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Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].睑裂狭小、上睑下垂、内眦赘皮综合征，1例与新发平衡常染色体易位[46,XY,t(3;7)(q23;q32)]相关的新病例。
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Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature.I 型 BPES 患者行体外受精时发生促性腺激素抵抗和卵母细胞获取量低的应对及解决办法：病例系列研究并文献复习
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本文引用的文献

1
Hereditary blepharophimosis, ptosis, and epicanthus inversus.遗传性睑裂狭小、上睑下垂和内眦赘皮。
J Int Coll Surg. 1960 May;33:558-74.
2
FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.伴有特殊面容及皮疹的家族性低体重侏儒症
J Med Genet. 1965 Mar;2(1):12-7. doi: 10.1136/jmg.2.1.12.
3
SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS.内眦赘皮倒向综合征、睑裂狭小症和上睑下垂的手术修复
Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series.
患有睑裂狭小-上睑下垂-内眦赘皮综合征女性的计划性卵母细胞冷冻保存：病例系列
F S Rep. 2021 May 27;2(3):332-337. doi: 10.1016/j.xfre.2021.05.006. eCollection 2021 Sep.
4
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.伴有KMT2A基因新生突变的维德曼-施泰纳综合征：一例报告
Medicine (Baltimore). 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813.
5
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.对中国睑裂狭小、上睑下垂、内眦赘皮综合征患者中发现的新型FOXL2突变的功能研究。
BMC Med Genet. 2018 Jul 20;19(1):121. doi: 10.1186/s12881-018-0631-8.
6
Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.新型FOXL2突变导致睑裂狭小-上睑下垂-内眦赘皮综合征伴卵巢早衰。
Mol Genet Genomic Med. 2018 Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29.
7
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.一名患有睑裂狭小-上睑下垂-内眦赘皮综合征、Dandy-Walker畸形和威斯康星综合征患者的新发3q22.3q24微缺失
Child Neurol Open. 2016 Sep 1;3:2329048X16666362. doi: 10.1177/2329048X16666362. eCollection 2016 Jan-Dec.
8
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.两个患有睑裂狭小-上睑下垂-内眦赘皮综合征的中国家系中的新型FOXL2突变
BMC Med Genet. 2015 Sep 1;16:73. doi: 10.1186/s12881-015-0217-7.
9
Genetics of primary ovarian insufficiency: new developments and opportunities.原发性卵巢功能不全的遗传学：新进展与机遇
Hum Reprod Update. 2015 Nov-Dec;21(6):787-808. doi: 10.1093/humupd/dmv036. Epub 2015 Aug 4.
10
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.FOXL2调节小鼠的软骨、骨骼发育以及胰岛素样生长因子1（IGF1）依赖的生长。
BMC Dev Biol. 2015 Jul 2;15:27. doi: 10.1186/s12861-015-0072-y.
Arch Ophthalmol. 1964 Apr;71:510-6. doi: 10.1001/archopht.1964.00970010526015.
4
[COMPLICATED FAMILIAL BLEPHAROPHIMOSIS. STUDY OF MEMBERS OF THE BLE FAMILY].[复杂家族性睑裂狭小症。BLE家族成员的研究]
Ann Pediatr (Paris). 1963 Oct 2;10:493-501.
5
Congenital blepharophimosis associated with a unique generalized myopathy.先天性睑裂狭小综合征伴一种独特的全身性肌病。
Arch Ophthalmol. 1962 Jul;68:52-7. doi: 10.1001/archopht.1962.00960030056011.
6
The genetic approach to hereditary congenital ptosis.
Aust N Z J Surg. 1959 May;28(4):274-9. doi: 10.1111/j.1445-2197.1959.tb06969.x.
7
Blepharophimosis congenita.先天性睑裂狭小综合征
Acta Genet Stat Med. 1957;7(2):279-84. doi: 10.1159/000150985.
8
Operations for epicanthus and blepharophimosis; an evaluation and a method for shortening the medial canthal ligament.内眦赘皮和睑裂狭小手术；内眦韧带缩短的评估及方法
Am J Ophthalmol. 1956 Jan;41(1):71-9.
9
Associated congenital abnormalities of the eyelids and appendages (syndrome).眼睑及附属器相关先天性异常（综合征）。
Plast Reconstr Surg (1946). 1953 May;11(5):348-52. doi: 10.1097/00006534-195305000-00003.
10
Blepharophimosis and cardiopathy.睑裂狭小症与心脏病。
J Pediatr Ophthalmol Strabismus. 1980 Jul-Aug;17(4):227-8. doi: 10.3928/0191-3913-19800701-07.