Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome
| Autor: | Anne-Martine R. de Heer, Patrick L. M. Huygen, Saumil N. Merchant, Cor W. R. J. Cremers, Janneke A.E. Kammeraad, Johannes R.M. Cruysberg |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent Physiology Hearing Loss Sensorineural Cardiomyopathy Autopsy DCN PAC - Perception action and control Deafness Sudden death Cataract 03 medical and health sciences Speech and Hearing Atrophy Audiometry Temporal bone otorhinolaryngologic diseases Humans Medicine Organ of Corti Growth Disorders Osteochondritis Cochlea 030304 developmental biology Neurons 0303 health sciences business.industry 030305 genetics & heredity Stria Vascularis Temporal Bone Spinal muscular atrophy medicine.disease Sensory Systems Pedigree 3. Good health Muscular Atrophy Otorhinolaryngology Evaluation of complex medical interventions [NCEBP 2] Female Histopathology business Follow-Up Studies |
| Zdroj: | Audiology and Neuro-Otology, 17, 219-27 Audiology and Neuro-Otology, 17, 4, pp. 219-27 |
| ISSN: | 1420-3030 |
| DOI: | 10.1159/000336212 |
| Popis: | Item does not contain fulltext 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. |
| Databáze: | OpenAIRE |
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