The orthopaedic presentation and management of Sjögren-Larsson syndrome.
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.
Haddad
F S
FS
Hospital for Sick Children, London, England, UK.
Lacour
M
M
Harper
J I
JI
Fixsen
J A
JA
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