M Letts1, A Kabir, D Davidson. 1. Division of Orthopaedics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.
Abstract
STUDY DESIGN: A review of current knowledge, clinical publications, and recent concepts of the causes of Stickler's syndrome was correlated with a clinical review of the condition at the Children's Hospital of Eastern Ontario, Canada. OBJECTIVES: To acquaint orthopedic spine surgeons with the natural history, associated anomalies, and high incidence of spinal deformity and scoliosis in children with Stickler's syndrome. SUMMARY OF BACKGROUND DATA: Stickler's syndrome is a hereditary, progressive arthro-ophthalmopathy with an autosomal dominant inheritance pattern. The estimated incidence is 1 in 10,000 people, which is slightly more common than Marfan syndrome. METHODS: The experience with Stickler's syndrome was reviewed in seven children, 2-15 years of age, with particular attention to the spinal abnormalities secondary to the connective tissue dysplasia. RESULTS: Six of the children had kyphosis or scoliosis, and four had wedging or flattening of the vertebrae or platyspondylia. In general, the spinal changes became more prominent in the older children with Stickler's syndrome, with the spinal vertebrae affected by the generalized epiphyseal dysplasia. The treatment of scoliosis and kyphosis is no different in children with Stickler's syndrome. The most difficult aspect is in diagnosing the condition. CONCLUSIONS: The importance of recognizing the syndrome is to allow for the investigation and treatment of the many other associated connective tissue disorders associated with Stickler's syndrome, such as the high incidence of retinal detachment, mitral valve prolapse, and mandibular hypoplasia that may result in problems with anesthesia should the spine require surgical stabilization.
STUDY DESIGN: A review of current knowledge, clinical publications, and recent concepts of the causes of Stickler's syndrome was correlated with a clinical review of the condition at the Children's Hospital of Eastern Ontario, Canada. OBJECTIVES: To acquaint orthopedic spine surgeons with the natural history, associated anomalies, and high incidence of spinal deformity and scoliosis in children with Stickler's syndrome. SUMMARY OF BACKGROUND DATA: Stickler's syndrome is a hereditary, progressive arthro-ophthalmopathy with an autosomal dominant inheritance pattern. The estimated incidence is 1 in 10,000 people, which is slightly more common than Marfan syndrome. METHODS: The experience with Stickler's syndrome was reviewed in seven children, 2-15 years of age, with particular attention to the spinal abnormalities secondary to the connective tissue dysplasia. RESULTS: Six of the children had kyphosis or scoliosis, and four had wedging or flattening of the vertebrae or platyspondylia. In general, the spinal changes became more prominent in the older children with Stickler's syndrome, with the spinal vertebrae affected by the generalized epiphyseal dysplasia. The treatment of scoliosis and kyphosis is no different in children with Stickler's syndrome. The most difficult aspect is in diagnosing the condition. CONCLUSIONS: The importance of recognizing the syndrome is to allow for the investigation and treatment of the many other associated connective tissue disorders associated with Stickler's syndrome, such as the high incidence of retinal detachment, mitral valve prolapse, and mandibular hypoplasia that may result in problems with anesthesia should the spine require surgical stabilization.