Results 31 to 40 of about 3,615 (173)

Mobius Syndrome with Duane Retraction: Abducens Nerve Aplasia and Facial Nerve Hypoplasia

Türk Oftalmoloji Dergisi, 2013
Mobius syndrome is a multisystem disorder and typically presents with 6th and 7th cranial nerves involvement. Neuroimaging studies have demonstrated crucial findings which may pave the way for understanding the basic pathophysiology of this rare entity.
Murat Küçükevcilioğlu, Fatih Mehmet Mutlu, Osman Melih Ceylan, Halil İbrahim Altınsoy, Turan Ilıca   +4 more
doaj   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Bilateral inverse Duane′s retraction syndrome-A case report

Indian Journal of Ophthalmology, 1991
Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome.
Chatterjee Pranab, Bhunia Jagneswar, Bhattacharyya Indranil   +2 more
doaj  

Management of duane retraction syndrome

Journal of the Egyptian Ophthalmological Society, 2019
Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan, Ghada Z. El-Abedin Abd El-Rahman Rajab, Abd El-Khalik I El-Saadani, Hatem M Marey   +3 more
doaj   +1 more source

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

Molecular Cytogenetics, 2020
Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the ...
Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias   +9 more
doaj   +1 more source

Duane′s retraction syndrome with severe upshoot and ipsilateral superior rectus contracture: A rare presentation

Journal of Clinical Ophthalmology and Research, 2014
Type III Duane′s retraction syndrome (DRS) is a rare condition and represents only 1% of all cases of Duane′s syndrome. It consists of limited/absent abduction as well as adduction of the affected eye.
Priyanka Arora, Suma Ganesh, Varshini Shanker   +2 more
doaj   +1 more source

One‐Year Quality of Life Among Survivors of Hospitalization for Omicron Infection in Brazil: A Multicentre Prospective Cohort Study

Journal of Medical Virology, Volume 97, Issue 11, November 2025.
ABSTRACT The lingering effects of COVID‐19 may impair survivors' long‐term health‐related quality of life (HRQoL). However, multicentre studies focusing on the Omicron variant, particularly in middle‐ and low‐income settings, are scarce. We conducted a prospective cohort study across 24 Brazilian hospitals between December 2021 and March 2024, when ...
Geraldine Trott, Marciane Maria Rover, Fernando Luis Scolari, Mariana Motta Dias da Silva, Denise de Souza, Rosa da Rosa Minho dos Santos, Raíne Fogliati De Carli, Emelyn de Souza Roldão, Gabriela Soares Rech, Duane Mocellin, Jennifer Menna Barreto de Souza, Aline Paula Miozzo, Carolina Rothmann Itaqui, Gabrielle Nunes da Silva, Sergio Renato da Rosa Decker, Erica Neves Leite, Carlos Delmar do Amaral Ferreira, Lucas Gobetti da Luz, Gabriel Beilfuss Rieth, Lucas Tramujas, Fernando Azevedo Medrado, Bruna Fornazieri Piotto, Gizelle Fernanda Oliveira Silva, Josafá Ferreira Chaves, Saionara Cristina Francisco, Precil Diego Miranda de Menezes Neves, Victor Augusto Hamamoto Sato, Viviane Cordeiro Veiga, Kaique Lima Martins, Cláudio Dornas de Oliveira, Sabrina Gomes dos Santos, Juliana Cardozo Fernandes, Thiago Costa Lisboa, Vivian Menezes Irineu, Mauricio Antonio Pompilio, Adriana de Oliveira França, Aline Coletto Jaccottet, Juliana Carvalho Schleder, Vinicius Ortigosa Nogueira, Vandack Nobre, Daniel Souto Silveira, Cézar Eumann Mesas, Diego Miltersteiner, Emanuelle Toledo Ortiz, Fernando Gioppo Blauth, Luciane Maria Facchi, Milena Soriano Marcolino, Ana Carolina Peçanha Antonio, Paulo R. Schvartzman, Bruna Brandão Barreto, Caroline Cabral Robinson, Maicon Falavigna, Carisi Anne Polanczyk, Luiz Antonio Nasi, Regis Goulart Rosa, Post‐Covid Brasil 1 Group Autorship   +55 more
wiley   +1 more source