Conclusion: Otologic and audiologic abnormalities are both highly prevalent in Chinese children with skeletal dysplasias. Audiologic and otologic evaluations with medical intervention are recommended for these children.
Objective: Children with skeletal dysplasia have a number of otolaryngologic issues including hearing loss. This study aimed to investigate the otologic and audiologic features of Chinese children with skeletal dysplasia in central China.
Methods: Otologic evaluations and pure tone audiometry were performed in children with skeletal dysplasias. To explore the potential associations with hearing loss, we studied various craniofacial anomalies.
Results: A total of 125 children (mean age 9.2 years, range 5-18 years) with skeletal dysplasia were enrolled, and otoscopic examination identified eardrum abnormalities in 45.6% of the children. Audiologic analysis revealed 14 cases (11.2%) with conductive hearing loss (CHL) and 22 cases (17.6%) with sensorineural hearing loss (SNHL).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/00016489.2013.771408 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Bone sarcomas and cancer predisposition syndromes.
Bull Cancer
January 2025
Department of Paediatric Oncology, Institut d'Haematologie et d'Oncologie Pédiatrique, Centre Léon-Bérard, Lyon, France. Electronic address:
Bone sarcomas, constituting less than 1% of malignant neoplasms across all age groups, are rare tumours possibly associated with genetic susceptibility syndromes. This review aims to provide recommendations for the detection of cancer predisposition syndromes associated with bone sarcomas and managing affected patients. Recommendations were formulated by a multidisciplinary working and reviewing group from GROUPOS and SFCE oncogenetic's group, including geneticists, oncologists, and radiologists.
View Article and Find Full Text PDFHomozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFEvolution of sleep disordered breathing in infants with achondroplasia.
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFEarly and multiple doses of zoledronate mitigates rebound bone loss following withdrawal of RANKL inhibition.
J Bone Miner Res
January 2025
Cancer Ecosystems Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Rebound bone loss following denosumab discontinuation is an important barrier in the effective long-term treatment of skeletal disorders. This is driven by increased osteoclastic bone resorption following the offset of RANKL inhibition, and sequential osteoclast-directed therapy has been utilised to mitigate this. However, current sequential treatment strategies intervene following the offset of RANKL inhibition and this approach fails to consistently prevent bone loss.
View Article and Find Full Text PDFTruncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).
Genet Mol Biol
January 2025
King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), College of Medicine, Riyadh, Saudi Arabia.
Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!