Publications by authors named "L Jonard"
Article Synopsis
- HDR syndrome is a rare genetic disorder characterized by hypoparathyroidism, hearing loss, and kidney abnormalities, caused by specific variants in the GATA3 gene.
- The study reviewed 28 patients and the existing literature, revealing that some conditions typically seen as rare, like genital malformations, are more common than previously thought.
- The research identified patterns in GATA3 variants and highlighted the importance of early hearing assessments and continuous monitoring of parathyroid function and urinary issues to prevent complications in affected individuals.
Article Synopsis
- Cochleovestibular dysfunctions are uncommon and often misdiagnosed, with a specific genetic mutation linked to these conditions.
- A pathogenic variant in the RIPOR2 gene was found in Tunisian siblings who have severe hearing and balance issues.
- Unlike the patients, animal models with Ripor2 mutations (like mice and zebrafish) maintain normal vestibular function, highlighting differences in how this mutation affects different species.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Int J Pediatr Otorhinolaryngol
August 2023
Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay.
View Article and Find Full Text PDFArticle Synopsis
- - Childhood hearing impairment can arise from various external factors, not including infections in the middle ear.
- - Some key causes include conditions affecting the embryo and fetus (embryofoetopathy), meningitis, physical injuries (trauma), harmful effects from medications (drug ototoxicity), and exposure to loud sounds (noise trauma).
- - Understanding these extrinsic causes is crucial for prevention and treatment strategies in managing hearing loss in children.
Article Synopsis
- The study investigates the prevalence of benign paroxysmal positional vertigo (BPPV) in patients with congenital mild to moderate hearing loss linked to deletions of the STRC gene (DFNB16).
- It was conducted as an observational study involving 64 patients, with 39% diagnosed with BPPV, and a median age of first symptoms being 13 years.
- The findings suggest a potential connection between BPPV and hearing loss associated with STRC gene deletions, highlighting the importance of informing patients about this risk for better management.