title: The musculoskeletal manifestations of the Coffin-Lowry syndrome.
abstract: Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by craniofacial abnormalities, mental retardation, short stature, and hypotonia. Patients with CLS may present with multiple musculoskeletal abnormalities. The purpose of this study was to identify and characterize the musculoskeletal findings in 10 patients with CLS. Eight patients presented with thoracolumbar kyphosis or kyphoscoliosis, with a mean Cobb angle of 45 degrees in the coronal plane and 31 degrees of thoracolumbar kyphosis. These may be progressive and difficult to treat, needing early surgical treatment. Close follow-up of the spinal deformities is strongly recommended to document progression. Sixty percent of the patients presented with bilateral flexible and painless planovalgus deformities. Hypoplasia of the ilium and hand deformities are common but do not seem to cause any functional problems. Observation is recommended for these asymptomatic hand, foot, and pelvic findings.
authors.affiliation: Nemours Children's Clinic Orlando, Orlando, FL 32806, USA. jsoto@nemours.org
authors.forename: Jose A
authors.initials: JA
authors.lastname: Herrera-Soto
authors.forename: Alberto
authors.initials: A
authors.lastname: Santiago-Cornier
authors.forename: Lee S
authors.initials: LS
authors.lastname: Segal
authors.forename: Norman
authors.initials: N
authors.lastname: Ramirez
authors.forename: Junichi
authors.initials: J
authors.lastname: Tamai
mesh_terms: D000293:Adolescent; D001847:Bone Diseases / Q000209:etiology*; D002648:Child; D038921:Coffin-Lowry Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology*