منابع مشابه
Familial Scheuermann disease: a genetic and linkage study.
Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological exami...
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 کاملA linkage study of candidate loci in familial Parkinson's Disease
BACKGROUND Parkinson's disease is the second most common neurodegenerative disorder after Alzheimer's disease. Most cases are sporadic, however familial cases do exist. We examined 12 families with familial Parkinson's disease ascertained at the Movement Disorder clinic at the Oregon Health Sciences University for genetic linkage to a number of candidate loci. These loci have been implicated in...
متن کاملThe genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart disease. FH is one of the most common inherited disorders; there are 10,000,000 people with FH worldwide, mainly heterozygotes. The most common FH cause is mu...
متن کاملRadiological imaging findings of scheuermann disease
AIM To find accompanying anomalies of typical and atypical Scheuermann's disease (SD) is reported in the present study. METHODS Study included 20 patients (16 men and 4 women) who had radiological imaging radiography, magnetic resonance imaging (MRI) and computed tomography, if available, due to back pain, curved back and low back pain in November 2011-February 2016 period. Patients were cate...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.1.41