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Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
- Source :
-
Audiology & neuro-otology [Audiol Neurootol] 2012; Vol. 17 (4), pp. 219-27. Date of Electronic Publication: 2012 Apr 05. - Publication Year :
- 2012
-
Abstract
- The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary gender characteristics and cardiomyopathy. Worldwide, only one family with this syndrome is known. An update of the clinical follow-up in this family and the results of autopsy are given. Audiometry showed a downsloping configuration that corresponded to the findings at histopathological examination of the cochlea: a diffuse atrophy of the organ of Corti, severe and diffuse atrophy of the stria vascularis and moderate loss of cochlear neurons in all turns. Another new striking feature is that individuals with the Nathalie syndrome have a shortened life expectancy with a risk of sudden death or death from heart failure resulting from (dilated) cardiomyopathy.<br /> (Copyright © 2012 S. Karger AG, Basel.)
- Subjects :
- Adolescent
Adult
Atrophy
Audiometry
Cataract physiopathology
Cochlea physiopathology
Deafness physiopathology
Female
Follow-Up Studies
Growth Disorders physiopathology
Hearing Loss, Sensorineural physiopathology
Humans
Male
Muscular Atrophy physiopathology
Neurons physiology
Organ of Corti pathology
Organ of Corti physiopathology
Osteochondritis physiopathology
Pedigree
Stria Vascularis pathology
Stria Vascularis physiology
Temporal Bone physiopathology
Cataract pathology
Cochlea pathology
Deafness pathology
Growth Disorders pathology
Hearing Loss, Sensorineural pathology
Muscular Atrophy pathology
Neurons pathology
Osteochondritis pathology
Temporal Bone pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1421-9700
- Volume :
- 17
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Audiology & neuro-otology
- Publication Type :
- Academic Journal
- Accession number :
- 22487897
- Full Text :
- https://doi.org/10.1159/000336212