title: New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
abstract: A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: G
authors.initials: G
authors.lastname: Annerén
authors.forename: H
authors.initials: H
authors.lastname: Malmgren
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: C G
authors.initials: CG
authors.lastname: Ljunggren
authors.forename: H
authors.initials: H
authors.lastname: Bäckman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics*; D014960:X Chromosome