Literature DB >> 1204231

The Nathalie syndrome. A new hereditary syndrome.

C W Cremers, B G Ter Haar, T J Van Rens.   

Abstract

Deafness, cataract, muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities are the features of a new, probably hereditary syndrome. Case reports are presented.

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Year:  1975        PMID： 1204231     DOI： 10.1111/j.1399-0004.1975.tb01511.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123

2.  Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran.

Authors:  Vahideh Toopchizadeh; Masood Ghahvechi Akbari; Afshin Habibzadeh
Journal:  J Pediatr Neurosci       Date:  2013-09

3.  Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

Authors:  Atchayaram Nalini; Amelie Pandraud; Kin Mok; Henry Houlden
Journal:  J Neurol Sci       Date:  2013-08-13       Impact factor: 3.181
  3 in total

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