title: Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?
abstract: Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, but much less severe microcephaly and a different type of movement disorder with later onset [Tomiwa K et al. (1987). Neuropediatrics 18:231-234]. An extensive literature search did not reveal any other reports of patients with a similar condition. We discuss the differential diagnosis.
authors.affiliation: Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: A S
authors.initials: AS
authors.lastname: Plomp
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: S F
authors.initials: SF
authors.lastname: Slaney
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002386:Cataract / Q000473:pathology*; D002819:Chorea / Q000473:pathology*; D003638:Deafness / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed