Results 51 to 60 of about 8,209 (195)

Clinical distinction between nasal optic disc hypoplasia (NOH) and glaucoma with NOH-like temporal visual field defects

Clinical Ophthalmology, 2010
Hiroshi Ohguro, Ikuyo Ohguro, Midori Tsuruta, Maki Katai, Sachie TanakaDepartment of Ophthalmology, Sapporo Medical University School of Medicine, JapanPurpose: To report on the clinically important differences between nasal optic hypoplasia (NOH) and ...
Hiroshi Ohguro, Ikuyo Ohguro, Midori Tsuruta, et al   +3 more
doaj  

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

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course

Epilepsy and Behavior Case Reports, 2017
Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum.
Mashael AlKhateeb, Richard McLachlan, Jorge Burneo, David Diosy, Seyed Mirsattari   +4 more
doaj   +1 more source

Idiopathic Intracranial Hypertension Associated With Transverse Sinus Giant Arachnoid Granulation Successfully Treated by Endovascular Stenting

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT The incidence of Idiopathic intracranial hypertension (IIH), defined as increased intracranial pressure of unknown origin, has been reported to be very low in Japan. A 42‐year‐old Japanese woman was admitted to our hospital with headache, blurred vision, and tinnitus.
Hiroka Sakaguchi, Mizuki Tagami, Akira Ueda, Satoshi Nozuchi, Kosuke Okamoto, Itsuki Hasegawa, Shigeru Honda, Yusuke Watanabe, Mio Nakamine, Takeo Goto, Yoshiaki Itoh   +10 more
wiley   +1 more source

Pattern of Retinal Nerve Fiber Layer Thickness Loss in Fetal Alcohol Syndrome: A Spectral-Domain Optical Coherence Tomography Analysis

Acta Médica Portuguesa, 2016
Introduction: Optic disc hypoplasia is a common feature in fetal alcohol syndrome. Thus, we aimed to evaluate the optic disc morphology changes and the peripapillary retinal nerve fiber layer thickness in these patients.
Carlos Menezes, Isabel Ribeiro, Pedro Coelho, Catarina Mateus, Carla Teixeira   +4 more
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source