Cargando…

Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report

Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented wi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hamdi, Talaat, Basheikh, Ahmed
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336651/ https://www.ncbi.nlm.nih.gov/pubmed/32642359 http://dx.doi.org/10.7759/cureus.8445

Ejemplares similares

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
por: Sakaria, Rishika P., et al.
Publicado: (2021)

Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report
por: Shah, Maulik, et al.
Publicado: (2005)

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
por: Kalinousky, Allison J., et al.
Publicado: (2022)

Capillary malformations in a child with Kabuki syndrome: A case report
por: Geers, Nikki C., et al.
Publicado: (2019)

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
por: Sakata, Sonoko, et al.
Publicado: (2017)

Transient Esotropia in the Child: Case Report and Review of the Literature
por: Allegrini, Davide, et al.
Publicado: (2017)

Long-Term Effects of Botulinum Toxin in Large-Angle Infantile Esotropia
por: Gallo, Flavio Gioele, et al.
Publicado: (2020)

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
por: Guo, Zhimei, et al.
Publicado: (2018)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Acute acquired concomitant esotropia with congenital paralytic strabismus: A case report
por: Zhang, Meng-Di, et al.
Publicado: (2023)

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
por: Maffre, Irene, et al.
Publicado: (2019)

Spinal ependymoma in a patient with Kabuki syndrome: a case report
por: Roma, Davide, et al.
Publicado: (2015)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Supramaximal Recession and Resection Surgery in Large-Angle Strabismus: Outcomes of Large Interventional Case Series Exotropia and Esotropia
por: Talebnejad, Mohammad Reza, et al.
Publicado: (2020)

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia
por: Leonardi, Lucia, et al.
Publicado: (2023)

Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome
por: Souabni, Saloua Ait, et al.
Publicado: (2023)

Botulinum Toxin as an Adjunct to Bilateral Medial Rectus Recessions for Large Angle of Esotropia in High Myopic Patients: A Case Report
por: Al-Obaisi, Saif, et al.
Publicado: (2023)

Stability and effects of muscle transplantation for very large angle esotropia: A study of 22 patients
por: Jethani, Jitendra Nenumal, et al.
Publicado: (2017)

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
por: Gole, Hobia, et al.
Publicado: (2016)

Carotid artery occlusion in Kabuki syndrome: Case report and literature review
por: Gatto, Luana A. M., et al.
Publicado: (2017)

Kabuki syndrome: clinical and molecular characteristics
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Neurobehavioral features in individuals with Kabuki syndrome
por: Caciolo, Cristina, et al.
Publicado: (2018)

Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome
por: Ferreira, Leonardo C., et al.
Publicado: (2020)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
por: Shaaban, Sherin, et al.
Publicado: (2018)

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
por: Kumar, Jeevan M., et al.
Publicado: (2011)

Consecutive cyclic esotropia – A case report
por: Pehere, Niranjan K, et al.
Publicado: (2019)

Dynamic Fusional Vergence Eye Movements in Congenital Esotropia
por: Morad, Yair, et al.
Publicado: (2008)

Congenital Sudoriferous Cyst within the Orbit Followed by Esotropia
por: Chung, J. K., et al.
Publicado: (2007)

Congenitally Impaired Disparity Vergence in Children With Infantile Esotropia
por: Kelly, Krista R., et al.
Publicado: (2016)

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
por: Guo, Wei, et al.
Publicado: (2020)

Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
por: Theodore‐Oklota, Christina, et al.
Publicado: (2020)

Three-muscle surgery for large-angle esotropia in chronic sixth nerve palsy: comparison of two approaches
por: Yao, Jing, et al.
Publicado: (2023)

Acute Comitant Esotropia in a Child With a Cerebellar Tumor
por: Lee, Jong-Min, et al.
Publicado: (2009)

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
por: Kim, Nam Gil, et al.
Publicado: (2011)

Anatomical and functional abnormalities on MRI in kabuki syndrome
por: Boisgontier, Jennifer, et al.
Publicado: (2018)

Kabuki Syndrome—Clinical Review with Molecular Aspects
por: Boniel, Snir, et al.
Publicado: (2021)

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
por: Chen, Yi-Hsing, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_u5gqfvdpqlpr267bfu6jcaa8gt