Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome).
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.
Cantani
A
A
5th Department of Pediatrics, University of Roma La Sapienza.
Bamonte
G
G
Tacconi
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003241:Consanguinity; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*