title: Orthopaedic manifestations of Marinesco-Sjögren syndrome.
abstract: Two patients with Marinesco-Sjögren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles resulted in progressive valgus, patellar dislocation, and quadriceps dysfunction. Marinesco-Sjögren syndrome seems to arise from an error in lysosomal handling of lipids. Timely orthopaedic intervention may be helpful in prolonging ambulation in these patients.
authors.affiliation: Shriners Hospitals for Children, Honolulu, Hawaii, USA. reinkerk@gte.net
authors.forename: Kent
authors.initials: K
authors.lastname: Reinker
authors.forename: Y Edward
authors.initials: YE
authors.lastname: Hsia
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: George
authors.initials: G
authors.lastname: Henry
authors.forename: Juliet
authors.initials: J
authors.lastname: Yuen
authors.forename: Berkley
authors.initials: B
authors.lastname: Powell
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D001848:Bone Diseases, Developmental / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics