Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
Audiol Neurootol
; 17(4): 219-27, 2012.
Article
en En
| MEDLINE
| ID: mdl-22487897
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteocondritis
/
Hueso Temporal
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Catarata
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Atrofia Muscular
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Cóclea
/
Sordera
/
Trastornos del Crecimiento
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Pérdida Auditiva Sensorineural
/
Neuronas
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Audiol Neurootol
Asunto de la revista:
AUDIOLOGIA
/
PSICOFISIOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Países Bajos