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.

Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

“…What is more, RSK2 out of function is related with bone mineralization abnormal and also induces spine malformations and calcifications of ligamentum flavum, such as thoracic lordosis, scoliosis, kyphosis, and degenerative disc disease (19, 20). Previous reports identified the ERK/ RSK2 as a regulator of bone formation in vivo (7).…”

Síndrome de Coffin-Lowry

“…Se puede presentar pectus excavatum o pectus carinatum, acortamiento del esternón y costillas supernumerarias. Las alteraciones en la columna vertebral comprometen las vértebras y los discos intervertebrales, ocasionando cifosis y escoliosis progresivas [5,7,9,11].…”

“…El crecimiento se altera en la primera infancia, según la hormona del crecimiento o somatotropina[8]. En la vida adulta persiste la talla baja y el retraso de la maduración ósea[9]. En las mujeres puede ser su única manifestación.…”

The natural history of spinal deformity in patients with Coffin-Lowry syndrome

“…4,11 Unfortunately, little is known about the natural history or frequency of some of their spinal manifestations. Herrera-Soto et al's article in 2007 12 discussed their experience with ten CLS patients with spinal abnormalities, seven of which had kyphosis or kyphoscoliosis. Of these seven patients, four required surgical intervention.…”