Results 71 to 80 of about 85,145 (254)

Superior segmental optic hypoplasia as a differential diagnosis of glaucoma

Taiwan Journal of Ophthalmology, 2019
Superior segmental optic hypoplasia (SSOH) is a congenital anomaly affecting the optic nerve head and retina. Although the conventional characterization of SSOH emphasizes the relatively superior entrance of the central retinal artery, the pallor of the ...
Tetsuya Yamamoto
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Superior segmental optic nerve hypoplasia: A diagnostic challenge masquerading as normal-tension glaucoma

Indian Journal of Ophthalmology. Case Reports
Superior segmental hypoplasia of the optic nerve head is a rare, congenital anomaly of the optic nerve head. Clinically, superior pallor of the optic nerve head associated with the corresponding thinning of the nerve fiber layer, superior entry of the ...
Harsh Abhishekh, Nandini Banad, Priyanka Walvekar, Jenil Sheth   +3 more
doaj   +1 more source

Septo-optic dysplasia Displasia septo-óptica

Arquivos de Neuro-Psiquiatria, 2010
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction.
Karina de Ferran, Isla Aguiar Paiva, Daniel Luiz Schueftan Gilban, Monique Resende, Micheline Abreu Rayol de Souza, Izabel Calland Ricarte Beserra, Marilia Martins Guimarães   +6 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

Pediatric Reports, 2011
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system.
Kuniko Takanashi, Yashuto Suzuki, Ayumu Noro, MInako Sugiyama, Masanori Nakanishi, Tetsuro Nagashima, Akie Nakamura, Ishizu Katsura, Toshihiro Tajima   +8 more
doaj   +1 more source

Fundus photographs from Case 14 with bilateral optic nerve hypoplasia.

, 2020
Case 14 was born preterm at 27 weeks of gestation. He had strabismus and was diagnosed with left sided optic nerve hypoplasia at 13 months of age, which on closer assessment proved to be bilateral optic nerve hypoplasia when he was 13 years of age.
Sara Dahl (541090), Jesper Eisfeldt (5007209), Anna Katharina Schröder (8431065), Maria Pettersson (764125), Kristina Teär Fahnehjelm (8431068), Ronny Wickström (509570), Anna Lindstrand (764128), Britt-Marie Anderlid (213968)   +7 more
core   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Walsh & Hoyt: Optic Nerve Hypoplasia

, 2005
Optic nerve hypoplasia is an anomaly that, until recently, escaped the scrutiny of even the most meticulous observers. It was not until the late 1960s that its clinical description became commonplace. Optic nerve hypoplasia is now unquestionably the most
Michael C. Brodsky, MD
core   +1 more source

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

Oman Journal of Ophthalmology, 2013
Background: Septo-optic dysplasia (SOD), also known as de-Morsier′s syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of ...
Rana Al-Senawi, Bushra Al-Jabri, Sana Al-Zuhaibi, Faisal Al-Azri, Saif Al-Yarubi, Beena Harikrishna, Amna Al-Futaisi, Anuradha Ganesh   +7 more
doaj   +1 more source