Results 51 to 60 of about 12,123 (207)

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

TGFβ-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism [PDF]

Open Biology, 2018
The optic fissure is a transient gap in the developing vertebrate eye, which must be closed as development proceeds. A persisting optic fissure, coloboma, is a major cause for blindness in children.
Max D. Knickmeyer, Juan L. Mateo, Priska Eckert, Eleni Roussa, Belal Rahhal, Aimee Zuniga, Kerstin Krieglstein, Joachim Wittbrodt, Stephan Heermann   +8 more
doaj   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

The α2C-adrenergic receptor mediates hyperactivity of coloboma mice, a model of attention deficit hyperactivity disorder

Neurobiology of Disease, 2006
Drugs that modify noradrenergic transmission such as atomoxetine and clonidine are increasingly prescribed for the treatment of attention deficit hyperactivity disorder (ADHD).
Kristy J. Bruno, Ellen J. Hess
doaj   +1 more source

Cutis Tricolor‐Like Pigmentary Mosaicism in Mowat–Wilson Syndrome: Phenotypic Overlap With Ruggieri–Happle Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis, Pierre Meyer, Marjolaine Willems   +2 more
wiley   +1 more source

Lateral Tarsorrhaphy and Fixation on the Orbital Ligament to Correct Macroblepharon in Dogs: 77 Palpebral Fissures

Veterinary Ophthalmology, Volume 28, Issue 2, Page 448-456, March 2025.
ABSTRACT Purpose To describe a surgical method for correcting lower lid entropion, lateral canthal entropion, and macroblepharon. Methods Lid margins were incised at a 45° angle, and lateral lid margins and a rhomboid shaped piece of skin were resected based on the degree of macroblepharon.
Maximilian Werner‐Tutschku, Barbara Nell   +1 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A Case Report of Ocular Coloboma in the CT-Scan

مجله دانشکده پزشکی اصفهان, 2015
Background: This is to report a patient with ocular coloboma presented in optic nerve without microphthalmos and orbital cist.   Case Report: A 13-years-old boy with optic disc coloboma was admitted with the best corrected vision of 20/70 and 20/80 in ...
Gholamali Naderian, Amin Moeini, Valleh Sajjadi, Mohammad Ashkan Naderian   +3 more
doaj  

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source