Metaphyseal chondrodysplasia with cone-shaped epiphyses: A specific form involving the lower limbs
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چکیده
منابع مشابه
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.
Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and low-normal intellectual ability.
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Genetic disorders of the skeleton or skeletal dysplasias are a clinically diverse and genetically heterogeneous group of connective tissue disorders affecting skeletal morphogenesis and development. More than 200 different entities have been described. Despite the growing availability of molecular testing for several of these disorders, the diagnosis of a skeletal dysplasia still relies primari...
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Of individuals with Amyoplasia, 16.8% (94/560) involve only the upper limbs (Upper Limb Amyoplasia-ULA) and 15.2% (85/560) involve only the lower limbs (Lower Limb Amyoplasia-LLA). The accompanying paper deals with other forms of Amyoplasia [Hall et al., 2013] and discusses etiology. An excess of one of monozygotic (MZ) twins is seen in both groups (ULA 4/94 (4.3%), LLA 5/85 (5.9%)), gastrointe...
متن کاملWide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
INTRODUCTION Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting findi...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2003
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.20411