Norrie-Wardburg syndrome (Journal article)

Skevas, A./ Kastanioudakis, I./ Daniilidis, B./ Exarchakos, G.


We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Adult,Audiometry, Pure-Tone,Audiometry, Speech,Deafness/diagnosis/genetics,Eye Neoplasms/diagnosis/genetics,Genes, Recessive/genetics,Humans,Male,Sex Chromosome Aberrations/genetics,Syndrome,*X Chromosome
URI: http://olympias.lib.uoi.gr/jspui/handle/123456789/19707
ISSN: 0935-8943
Link: http://www.ncbi.nlm.nih.gov/pubmed/1418232
https://www.thieme-connect.de/DOI/DOI?10.1055/s-2007-997349
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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