Goldenhar syndrome

González-Rodríguez, Beatriz; González-Rodríguez, María

doi:10.1016/j.ajo.2021.09.012

Cited by 3 publications

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is typically characterized by the triad of mandibular hypoplasia, vertebral anomalies and auricular malformations. The mandible, ear, nose, soft palate, and the lip are incompletely developed on one side of the face ( Gonzalez-Rodriguez and Gonzalez-Rodriguez, 2021 ). Hemifacial microsomia is a clinical feature of Goldenhar syndrome as described in the section on ‘Prominent localized craniofacial disorders and dysplasia with systemic components’.…”

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

View full text Add to dashboard Cite

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

View full text Add to dashboard Cite

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

Jiang,

Xiao,

Sun

et al. 2024

J Transl Med

View full text Add to dashboard Cite

Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.

show abstract