منابع مشابه
Familial Adolescent-Onset Scoliosis and Segmental Dystonia
Idiopathic scoliosis is a common disorder characterized by abnormal curvature of the spine with onset typically in adolescence. Adult-onset primary torsion dystonia (AOPTD) is a focal dystonia with onset in early-middle age consisting of abnormal twisting or directional movements and postures; common phenotypes include cervical dystonia, blepharospasm, and focal hand dystonia. Numerous case rep...
متن کاملFamilial idiopathic scoliosis: evidence of an X-linked susceptibility locus.
STUDY DESIGN A genomic screen and statistical linkage analysis of a large sample of families with individuals having idiopathic scoliosis was performed. OBJECTIVES To identify an X-linked susceptibility locus involved in the expression of familial idiopathic scoliosis. SUMMARY OF BACKGROUND DATA A large sample of families with individuals having idiopathic scoliosis (202 families; 1198 indi...
متن کاملFamilial lumbar Scheuermann disease with idiopathic scoliosis in China
RATIONALE Given that Scheuermann disease rarely occurs in the lumbar region and that the co-occurrence of Scheuermann disease and idiopathic scoliosis (IS) has not been reported-the etiology of Scheuermann disease and IS is not clear. In this case report, we present familaiar lumbar Scheuermann disease with IS, in a Chinese proband, who was successfully treated with surgery. PATIENT CONCERNS ...
متن کاملFamilial infantile scoliosis associated with bilateral paralysis of conjugate gaze.
A family with two sibs suffering from idiopathic infantile scoliosis associated with bilateral paralysis of conjugate gaze is reported. Although the parental consanguinity and the involvement of patients of both sexes in this family are suggestive of an autosomal recessive mode of inheritance, a dominant or multifactorial pattern remains a possibility.
متن کاملExome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis
Idiopathic scoliosis occurs in 3% of individuals and has an unknown etiology. The objective of this study was to identify rare variants that contribute to the etiology of idiopathic scoliosis by using exome sequencing in a multigenerational family with idiopathic scoliosis. Exome sequencing was completed for three members of this multigenerational family with idiopathic scoliosis, resulting in ...
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ژورنال
عنوان ژورنال: The Journal of Bone and Joint Surgery. British volume
سال: 1975
ISSN: 0301-620X,2044-5377
DOI: 10.1302/0301-620x.57b2.146