Literature DB >> 2503803

Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome).

A Cantani1, G Bamonte, M L Tacconi.   

Abstract

Waardenburg's Syndrome (WS), a rare disorder inherited as an autosomal dominant trait with variable penetrance, is characterized by white forelock, eye-ear symptoms and signs, and dysmorphic features. The authors describe two cases of WS with mental retardation and developmental and EEG anomalies. Therefore they suggest to perform an EEG in all suspected cases of WS.

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Year:  1989        PMID: 2503803

Source DB:  PubMed          Journal:  Padiatr Padol        ISSN: 0030-9338


  2 in total

1.  Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Authors:  R L Touraine; T Attié-Bitach; E Manceau; E Korsch; P Sarda; V Pingault; F Encha-Razavi; A Pelet; J Augé; A Nivelon-Chevallier; A M Holschneider; M Munnes; W Doerfler; M Goossens; A Munnich; M Vekemans; S Lyonnet
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

2.  Corpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I.

Authors:  Takafumi Shimogawa; Nobutaka Mukae; Takato Morioka; Ayumi Sakata; Yasunari Sakai; Nozomu Matsumoto; Masahiro Mizoguchi
Journal:  Surg Neurol Int       Date:  2021-05-10
  2 in total

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