John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response Volume 2, numéro 3, Septembre 2000

Vidéo

  • Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response

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Auteurs
Hospital Nacional de Pediatría “JP Garrahan”, Department of Neurology, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina.
  • Page(s) : 173-6
  • Année de parution : 2000

Coffin-Lowry syndrome (CLS) was described by Coffin et al. [1] and Lowry et al. [2] in 1966 and 1971 respectively and was recognised as a clinical entity by Tentamy et al. [3]. It is transmitted by X-linked semi-dominant inheritance. The gene maps to Xp 22 [4, 5]. This dysmorphic syndrome is recognisable in males, who are usually severely retarded and have the following facial features: hypertelorism with down-slanting palpebral fissures, [...]