title: The orthopaedic presentation and management of Sjögren-Larsson syndrome.
abstract: Sjögren-Larsson syndrome is a rare autosomal recessive neurocutaneous disorder in which the combination of spasticity, ichthyosis, and mental retardation commonly result in patients being wheelchair bound. We reviewed a cohort of children with Sjögren-Larsson syndrome who were successfully managed with early physiotherapy and later soft-tissue surgery. The favourable outcome seen in these patients should encourage orthopaedic intervention in suitable cases.
authors.affiliation: Hospital for Sick Children, London, England, UK.
authors.forename: F S
authors.initials: FS
authors.lastname: Haddad
authors.forename: M
authors.initials: M
authors.lastname: Lacour
authors.forename: J I
authors.initials: JI
authors.lastname: Harper
authors.forename: J A
authors.initials: JA
authors.lastname: Fixsen
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D011859:Radiography; D012189:Retrospective Studies