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Items: 1 to 20 of 222

1.
Modified Conjoint Fascial Sheath and Levator Muscle Complex Suspension for the Correction of Simple Severe Congenital Ptosis in Pediatrics and the Effect on Refractive Status
Jing Li, Xinyue Yu, Kerui Wang, Ziwei Meng, Xuanwei Liang, Rongxin Chen
Ophthalmic Plast Reconstr Surg. 2024 Jul-Aug; 40(4): 392–398. Published online 2024 Jan 17. doi: 10.1097/IOP.0000000000002589
PMCID:
PMC11221790
AbstractArticlePDF–646K
2.
DOK7 congenital myasthenic syndrome: case series and review of literature
Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Akram Panahi, Ariana Kariminejad, Mahsa Fadaee, Fatemeh Ahangari, Shahriar Nafissi
BMC Neurol. 2024; 24: 211. Published online 2024 Jun 21. doi: 10.1186/s12883-024-03713-0
PMCID:
PMC11191154
AbstractArticlePDF–1.0M
3.
Eyelid retraction during smiling in a patient with monocular congenital ptosis: a case report
Yiyang Zhao, Jing Fu, Jie Hao
BMC Ophthalmol. 2024; 24: 232. Published online 2024 May 31. doi: 10.1186/s12886-024-03485-8
PMCID:
PMC11143675
AbstractArticlePDF–1023K
4.
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity
Johanna Palmio, Panu Kiviranta, Päivi H. Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd
Neurol Genet. 2024 Jun; 10(3): e200155. Published online 2024 May 7. doi: 10.1212/NXG.0000000000200155
PMCID:
PMC11081763
AbstractArticlePDF–178K
5.
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Diagnostics (Basel) 2024 Apr; 14(8): 846. Published online 2024 Apr 19. doi: 10.3390/diagnostics14080846
PMCID:
PMC11049448
AbstractArticlePDF–1.0M
6.
Elastin expression in the conjoint fascial sheath and levator palpebrae superioris muscle of children with unilateral severe congenital ptosis with different muscle strengths
Xin Jia, Zhaochuan Liu, Junhu Shi, Runhui Pang, Huixing Wang, Mengmeng Wang, Hongbin Zhang, Shan Liu, Ping Bai
Exp Ther Med. 2024 May; 27(5): 196. Published online 2024 Mar 12. doi: 10.3892/etm.2024.12484
PMCID:
PMC10966666
AbstractArticlePDF–519K
7.
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Orphanet J Rare Dis. 2024; 19: 113. Published online 2024 Mar 12. doi: 10.1186/s13023-024-03116-x
PMCID:
PMC10935773
AbstractArticlePDF–1.9M
8.
Sling for the sling: a new technique for long-term correction of severe congenital ptosis
Ahmed N. Kotb, Noha M. Soliman, Ahmer Raza, Noran A. Nour, Hala K. Mattout
BMC Ophthalmol. 2024; 24: 112. Published online 2024 Mar 7. doi: 10.1186/s12886-024-03371-3
PMCID:
PMC10921586
AbstractArticlePDF–1.9M
9.
Congenital ptosis with aponeurotic maldevelopment: clinical and surgical perspectives: Aponeurotic maldevelopment in congenital ptosis
Yomna A Alahmadawy, Rania A Ahmed
Int Ophthalmol. 2024; 44(1): 123. Published online 2024 Mar 2. doi: 10.1007/s10792-024-03053-5
PMCID:
PMC10907453
AbstractArticlePDF–989K
10.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub
Version 1. medRxiv. Preprint. 2024 Feb 11. doi: 10.1101/2024.02.10.24302480
Published in:
J Med Genet. 2024 Aug 28
PMCID:
PMC10871378
AbstractArticle
11.
Orbital septum attachment site on the levator aponeurosis sling for mild congenital blepharoptosis
Jianwei Yang, Lihua Song, Yan Tan, Lulu Zhang, Juan Wang, Limin Liu
Int Ophthalmol. 2024; 44(1): 5. Published online 2024 Feb 5. doi: 10.1007/s10792-024-02967-4
PMCID:
PMC10844413
AbstractArticlePDF–688K
12.
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Front Pediatr. 2024; 12: 1280394. Published online 2024 Jan 18. doi: 10.3389/fped.2024.1280394
PMCID:
PMC10830679
AbstractArticlePDF–1.5M
13.
Outcomes of a novel algorithm for levator muscle plication surgery in congenital blepharoptosis
Ahmed N Kotb, Moustafa A. Salamah, Ahmad S. Khalil, Reem Amir Kamal Dessouky
BMC Ophthalmol. 2024; 24: 22. Published online 2024 Jan 16. doi: 10.1186/s12886-024-03287-y
PMCID:
PMC10790380
AbstractArticlePDF–1.0M
14.
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy
Bhanudeep Singanamalla, Shivan Kesavan, Divya Aggarwal, Debajyoti Chatterjee, Andoni Urtizberea, Renu Suthar
J Pediatr Genet. 2023 Dec; 12(4): 318–324. Published online 2021 Jul 3. doi: 10.1055/s-0041-1731683
PMCID:
PMC10756716
AbstractArticlePDF–471K
15.
Surgical Outcomes After Frontalis Suspension Using Expanded Polytetrafluoroethylene Sling for Congenital Ptosis
Benjamin K Ghiam, Robin C Su, Faruk Orge
Cureus. 2023 Nov; 15(11): e49020. Published online 2023 Nov 18. doi: 10.7759/cureus.49020
PMCID:
PMC10727487
AbstractArticlePDF–281K
16.
The role of Whitnall’s ligament position in the success of levator resection surgery in congenital ptosis
Mansooreh Jamshidian Tehrani, Abolfazl Kasaee, Haniyeh Zeidabadinejad, Mansoor Shahriari, Seyed Mohsen Rafizadeh
BMC Ophthalmol. 2023; 23: 494. Published online 2023 Dec 5. doi: 10.1186/s12886-023-03238-z
PMCID:
PMC10696829
AbstractArticlePDF–1.0M
17.
A Case Report on Cervicofacial Subcutaneous Emphysema and Its Management: A Unique Presentation of Congenital Defect of the Foramen of Huschke
Siti Nurafiqah Sharudin, Nor Azirah Salahuddin, Siti Asmat Md Arepen, Noor Azrin Md Anuar, Nor Eyzawiah Hassan, Shahrul Hitam, Fadzilah Ismail, Salina Husain
Cureus. 2023 Oct; 15(10): e47078. Published online 2023 Oct 15. doi: 10.7759/cureus.47078
PMCID:
PMC10644125
AbstractArticlePDF–1.3M
18.
Prenatal and postnatal diagnosis of congenital hymen prolapse: A case report
Maochun Zhang, Xueying Wang, Jiao Chen, Shichun Wang, Menglin Luo
Medicine (Baltimore) 2023 Oct 27; 102(43): e35700. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000035700
PMCID:
PMC10615428
AbstractArticlePDF–355K
19.
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers
Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi
Clin Case Rep. 2023 Oct; 11(10): e8062. Published online 2023 Oct 23. doi: 10.1002/ccr3.8062
PMCID:
PMC10593973
AbstractArticlePDF–1.0M
20.
COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature
Yatao Yin, Jing Cao, Yuanteng Fan, Yan Xu
Heliyon. 2023 Sep; 9(9): e19980. Published online 2023 Sep 12. doi: 10.1016/j.heliyon.2023.e19980
PMCID:
PMC10559664
AbstractArticlePDF–904K

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