2002Clinical Orthopaedics and Related ResearchRequires access

Idiopathic Scoliosis in Families of Children With Congenital Scoliosis

Sheila B. A. Purkiss, Brandon Driscoll, William G. Cole, Benjamin A. Alman

Open publisher page 66 citations

Abstract

Although most cases of congenital scoliosis are thought to be of sporadic etiology, it is not known whether other types of spinal deformity occur in families of individuals with this type of scoliosis. Children with congenital scoliosis were identified through a review of health records and radiographic report databases. Of 237 children with congenital scoliosis investigated, 49 (20.7%) reported a family history of spinal deformity. Detailed pedigrees were done, which showed a history of idiopathic scoliosis in 17.3% of the 237 families. This is a higher than expected rate of spinal deformity in families of children with congenital scoliosis, and the strong association of idiopathic scoliosis in families of children with congenital scoliosis has not been reported previously. Although this finding could be related to the chance occurrence of multiple genetic abnormalities or sporadic events in these families, it does raise the possibility that one genetic defect at least predisposes these families to having different types of spinal deformity develop.

About this research paper

What this paper is about

Although most cases of congenital scoliosis are thought to be of sporadic etiology, it is not known whether other types of spinal deformity occur in families of individuals with this type of scoliosis. Children with congenital scoliosis were identified through a review of health records and radiographic report databases. Of 237 children with congenital scoliosis investigated, 49 (20.7%) reported a family history of spinal deformity. Detailed pedigrees were done, which showed a history of idiopathic scoliosis in 17.3% of the 237 families. This is a higher than expected rate of spinal deformity in families of children with congenital scoliosis, and the strong association of idiopathic scoliosis in families of children with congenital scoliosis has not been reported previously. Although this finding could be related to the chance occurrence of multiple genetic abnormalities or sporadic events in these families, it does raise the possibility that one genetic defect at least predisposes these families to having different types of spinal deformity develop.

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Available abstract

Although most cases of congenital scoliosis are thought to be of sporadic etiology, it is not known whether other types of spinal deformity occur in families of individuals with this type of scoliosis. Children with congenital scoliosis were identified through a review of health records and radiographic report databases. Of 237 children with congenital scoliosis investigated, 49 (20.7%) reported a family history of spinal deformity. Detailed pedigrees were done, which showed a history of idiopathic scoliosis in 17.3% of the 237 families. This is a higher than expected rate of spinal deformity in families of children with congenital scoliosis, and the strong association of idiopathic scoliosis in families of children with congenital scoliosis has not been reported previously. Although this finding could be related to the chance occurrence of multiple genetic abnormalities or sporadic events in these families, it does raise the possibility that one genetic defect at least predisposes these families to having different types of spinal deformity develop.

Key concepts: Scoliosis, Medicine, Congenital scoliosis, Deformity, Etiology, Pedigree chart, Pediatrics, Rachis

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