title: Disordered peripheral nerve conduction in DOOR(S) syndrome.
abstract: A case of DOOR(S) syndrome is detailed and the neurophysiological abnormalities observed in this patient and in other cases with this rare but recognisable autosomal recessive condition are considered. Particular emphasis is paid to the abnormal peripheral nerve conduction, which has not previously been recorded in the condition.
authors.affiliation: Department of Clinical Genetics, Hospital for Sick Children, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: S
authors.initials: S
authors.lastname: Boyd
authors.forename: M C
authors.initials: MC
authors.lastname: Pitt
authors.forename: J
authors.initials: J
authors.lastname: Wilson
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D001921:Brain / Q000503:physiopathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004569:Electroencephalography; D004596:Electroretinography; D005071:Evoked Potentials; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D012640:Seizures / Q000150:complications / Q000503:physiopathology; D013577:Syndrome