BACKGROUND AND PURPOSE: Klippel-Feil syndrome (KFS) is a congenital segmentation anomaly of the cervical vertebrae that manifests as short neck, low hair line, and limited neck mobility. Various systemic malformations may also accompany the syndrome including wide variety of otopathologies affecting all 3 compartments of the ear (external, middle, and inner ear) as well as internal acoustic canal and vestibular aqueduct. We aimed to investigate these involvements and their clinical correlates in a group of patients with KFS. MATERIALS, METHODS, AND RESULTS: We present 20 KFS cases, of which 12 (% 60) displayed most of the reported ear abnormalities such as microtia, external ear canal stenosis, chronic ear inflammations and their sequels, anomalies of the tympanic cavity and ossicles, inner ear dysplasies, deformed internal acoustic canal, and wide vestibular aqueduct, which are demonstrated using the methods of otoscopy, audiologic testing, and temporal bone computed tomography. CONCLUSIONS: This series represents one of the highest reported rate of ear involvement in KFS. We found no correlation between the identified ear pathologies and the skeletal and extraskeletal malformations. The genetic nature of the syndrome was supported by the existence of affected family members in 4 (20%) of the cases.
BACKGROUND AND PURPOSE:Klippel-Feil syndrome (KFS) is a congenital segmentation anomaly of the cervical vertebrae that manifests as short neck, low hair line, and limited neck mobility. Various systemic malformations may also accompany the syndrome including wide variety of otopathologies affecting all 3 compartments of the ear (external, middle, and inner ear) as well as internal acoustic canal and vestibular aqueduct. We aimed to investigate these involvements and their clinical correlates in a group of patients with KFS. MATERIALS, METHODS, AND RESULTS: We present 20 KFS cases, of which 12 (% 60) displayed most of the reported ear abnormalities such as microtia, external ear canal stenosis, chronic ear inflammations and their sequels, anomalies of the tympanic cavity and ossicles, inner ear dysplasies, deformed internal acoustic canal, and wide vestibular aqueduct, which are demonstrated using the methods of otoscopy, audiologic testing, and temporal bone computed tomography. CONCLUSIONS: This series represents one of the highest reported rate of ear involvement in KFS. We found no correlation between the identified ear pathologies and the skeletal and extraskeletal malformations. The genetic nature of the syndrome was supported by the existence of affected family members in 4 (20%) of the cases.
Authors: Regie Lyn P Santos-Cortez; Talitha Karisse L Yarza; Tori C Bootpetch; Ma Leah C Tantoco; Karen L Mohlke; Teresa Luisa G Cruz; Mary Ellen Chiong Perez; Abner L Chan; Nanette R Lee; Celina Ann M Tobias-Grasso; Maria Rina T Reyes-Quintos; Eva Maria Cutiongco-de la Paz; Charlotte M Chiong Journal: Genes (Basel) Date: 2021-04-13 Impact factor: 4.096
Authors: Margaret A Kenna; Alexandria L Irace; Julie E Strychowsky; Kosuke Kawai; Devon Barrett; Juliana Manganella; Michael J Cunningham Journal: JAMA Otolaryngol Head Neck Surg Date: 2018-03-01 Impact factor: 6.223