Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

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Title:	Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
Author(s):	Heer, A.M. de ; Merchant, S.N.; Kammeraad, J.A.; Cruysberg, J.R.M. ; Huygen, P.L.M. ; Cremers, C.W.R.J.
Publication year:	2012
Source:	Audiology and Neuro-Otology, vol. 17, iss. 4, (2012), pp. 219-227
ISSN:	1420-3030
DOI:	http://dx.doi.org/10.1159/000336212
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/110570
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Subject:	DCN PAC - Perception action and control NCEBP 2: Evaluation of complex medical interventions
Organization:	Otorhinolaryngology Ophthalmology
Journal title:	Audiology and Neuro-Otology
Volume:	vol. 17
Issue:	iss. 4
Page start:	p. 219
Page end:	p. 227
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.