Results 41 to 50 of about 17,204 (212)

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]

, 2015
We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni, Bertini, E., Böhm, J., Fattori, F., Garibaldi, Matteo, Laporte, J., Laschena, F., Ottaviani, P., Romero, N.   +8 more
core   +1 more source

Stereopsis and clinical features of esotropia patients accompanied by congenital mild ptosis [PDF]

Kosin Medical Journal
Background To evaluate binocular function and clinical features in patients with esotropia (ET) accompanied by congenital ptosis. Methods Clinical records of 44 ET patients with congenital ptosis (ET-ptosis group) and 71 age-matched ET patients without ...
Heeyoung Choi, Su-Jin Kim, Seung Ahn Yang, Kwang Eon Han   +3 more
doaj   +1 more source

Marcus Gunn jaw-winking syndrome: A case report

Acta Marisiensis - Seria Medica, 2023
Marcus Gunn jaw wink phenomenon or Trigeminal oculomotor synkinesis, is a congenital disorder in which the upper lid moves synkinetically in response to jaw movement during chewing. The term synkinesis describes the simultaneous movement or a coordinated
Sathish Sivan, Subramani Manonmani, Patel Pranay, Hirani Nidhi, Arjunan Priyadharshini   +4 more
doaj   +1 more source

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David, Palmowski-Wolfe, Anja, Sekulic-Jablanovic, Marijana, Treves, Susan, Ullrich, Nina D., Zorzato, Francesco   +5 more
core   +2 more sources

Baraitser-Winter cerebrofrontofacial syndrome [PDF]

, 2016
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems.
Baraitser, Belyantseva, Bergeron, Bunnell, Bunnell, Cheever, Der Kaloustian, Di Donato, Di Donato, Drummond, Dugina, Dugina, Fletcher, Forbes, Fryns, Gearing, Ghosh, Gomez, Guion-Almeida, Hundt, Johnston, Karakozova, Koçak Eker, Lohr, Perrin, Perrin, Poirier, Ramer, Rendtorff, Retterer, Rivière, Rossi, Skalicky, Sonnemann, Stern, Verloes, Wijk, Winter, Yamazaki, Zhang   +39 more
core   +2 more sources

Evaluation of transconjunctival levator tucking for congenital ptosis

Journal of the Egyptian Ophthalmological Society, 2017
Purpose The purpose of this paper is to evaluate the efficacy, cosmetic results, and safety of transconjunctival tucking of the levator aponeurosis for correction of simple congenital ptosis.
Mohamed F.S. Othman Abdelkader, Raafat M Abdelrahman Abdallah   +1 more
doaj   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Bilateral Frontalis Sling for Surgical Correction of Unilateral and Bilateral Severe Congenital Ptosis with Poor Levator Function

Philippine Journal of Ophthalmology, 2023
Objective: This study evaluated the functional and cosmetic outcomes after bilateral frontalis sling repair using either expanded polytetrafluoroethylene (ePTFE) or silicone rod for unilateral or bilateral severe congenital ptosis with poor levator ...
Reynaldo M. Javate, MD, FICS
doaj