MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia
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چکیده
منابع مشابه
Dyggve melchior clausen syndrome.
Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) an...
متن کاملDyggve-Melchior-Clausen syndrome.
Dyggve-Melchior-Clausen syndrome (DMC) is a rare, dwarfing, skeletal dysplasia characterised by a coarse facies, bulky jaws, short trunk, and barrel chest. Significant radiographical changes include platyspondyly and dysplasia of the epiphyses and metaphyses of the proximal limb bones. Dislocation of the hips and malalignment of the spine and knees are variable features. Inheritance is autosoma...
متن کاملDyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for mental retardation. Iliac crest biopsies from two patients with SM were examined. The lace-like appearance of the iliac crests, which is a characteristic radiological sign of SM and DMC, was caused ...
متن کاملHomozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features. X rays show platyspondyly with double vertebral hump, epiphyseal dysplasia, irregular metaphyses, and a characteristic lacy appearance of the iliac crests. Electron microscopy of ch...
متن کاملGenomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.
BACKGROUND Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation. Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12-21), with the majority predicting the generation of a truncated protein product. OBJECTIVE To carry out molecular genetic studies in three DMC kindreds...
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ژورنال
عنوان ژورنال: Journal of Magnetic Resonance Imaging
سال: 2005
ISSN: 1053-1807,1522-2586
DOI: 10.1002/jmri.20414