Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome.
Lowe oculocerebrorenal syndrome (OCRS), as previously described in the literature, consists of a well-defined constellation of clinical findings involving the eyes, cerebrum, and kidneys. However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint effusions. No other specific orthopedic problems have been described. This study presents new clinical findings of scoliosis, kyphosis, platyspondyly, dislocated and/or subluxed hips, and cervical spine abnormalities in six patients with OCRS treated at Carrie Tingley Hospital (Albuquerque, NM, U.S.A.). This study further supports an X-linked recessive mode of inheritance and adds clinical support to the published work that suggests that Lowe syndrome may be due to biochemical abnormalities in glycosaminoglycan metabolism.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D011859:Radiography; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis*; D014960:X Chromosome
D006025:Glycosaminoglycans