Identification of the audiological and temporal bone radiology manifestations of SOFT syndrome: a case report
Egyptian Journal of Otolaryngology, vol.39, no.1, 2023 (ESCI)
- Publication Type: Article / Article
- Volume: 39 Issue: 1
- Publication Date: 2023
- Doi Number: 10.1186/s43163-023-00427-x
- Journal Name: Egyptian Journal of Otolaryngology
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
- Keywords: SOFT syndrome, POC1A gene, Hearing loss, PRIMORDIAL DWARFISM, SHORT STATURE, HEARING-LOSS, HYPOTRICHOSIS
- Open Archive Collection: AVESIS Open Access Collection
- Marmara University Affiliated: No
Abstract
Background: SOFT syndrome is characterized by prenatal onset growth retardation, brachydactyly, onychodysplasia, postpubertal onset hypotrichosis, normal psychomotor development, and facial dysmorphism including dolichocephaly, elongated triangular face, prominent forehead and nose, and abnormal ear structure. This syndrome has been described in 31 patients worldwide. Case presentation: In this case report, the audiological and temporal bone radiological results of a 4-year- and 5-month-old patient with SOFT syndrome are presented. Bilateral internal acoustic canals (IAC) are dilated with lobulated contour. Conclusions: This case report is the first in the literature as it reports audiological and temporal bone radiology observations in SOFT syndrome. It is thought that regular and detailed audiological and temporal bone radiology evaluations performed in patients with different SOFT syndrome will be a reference for determining the characteristic audiological and temporal bone radiological findings related to this syndrome.