Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive pattern of bone changes. The radiographic features seen in the 15 patients described in this report include platyspondyly with notched end plates of the vertebral bodies, small ilia with broad, frequently lacy crests, lateral displacement of the capital femoral epiphyses, and accessory ossification centers of the first metacarpals, proximal and middle phalanges. Cytological and biochemical data, notably a normal sulfate incorporation into acid mucopolysaccharides of cultured fibroblasts, indicate that the Dyggve-Melchior-Clausen syndrome is not a mucopolysaccharidosis as has been previously suggested.
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PMID:The Dyggve-Melchior-Clausen syndrome. 80 18

An 18-year-old mentally retarded girl with short-trunked dwarfism is described as a case of the Dyggve-Melchior-Clausen syndrome. This disorder is characterized by distinctive skeletal radiographic changes, particularly a lacey appearance of the iliac crest. This syndrome appears to be inherited as an autosomal recessive trait. Reports of several cases with similar radiographic changes but without mental retardation suggest heterogeneity within this syndrome.
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PMID:The Dyggve-Melchior-Clausen syndrome. 500 11

The Dyggve-Melchior-Clausen syndrome is a probably autosomal recessively inherited disorder characterized by mental retardation, dwarfism, and skeletal abnormalities especially of the spine, pelvis and hands. It is possibly caused by a disturbance in the protoglycan metabolism. Two Moroccan sibs with this syndrome are described, the first in Dutch literature.
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PMID:[Dyggve-Melchior-Clausen syndrome]. 650 57

The Dyggve-Melchior-Clausen syndrome is inherited in an autosomal recessive mode and is clinically characterized by mental retardation, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by microcephaly. Specific radiologic findings concern the vertebral column, the pelvis, and the hands. A patient suffering from this syndrome is presented, the literature is summarized, and the clinical and radiologic manifestations are reviewed. As in two cases studied by others [27], the incorporation of radioactive sulphate into the mucopolysaccharides of the fibroblasts was normal in our patient. The activity of arylsulphatase B in the fibroblasts, however, was reduced as in the leucocytes of three reported cases [21]. These observations suggest that an as yet undefined specific sulphatase could be of importance for the pathogenesis of this condition.
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PMID:[Dyggve-Melchior-Clausen syndrome. Case report and review of the literature]. 703 91

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 by bone tissue deposited in a wavy pattern at the osteochondral junction. The growth plate showed abnormal enchondral ossification with no columnarization of chondrocytes. Electron microscopy demonstrated chondrocytes with dilated cisternae of rough endoplasmic reticulum containing fine granular or amorphous material, similar to those reported in cases of DMC. Thus, SM has pathologic changes in common with DMC as a rough endoplasmic reticulum storage disorder, even though the mental condition is different.
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PMID:Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. 929 67

We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation. A Chiari pelvic osteotomy was performed to halt hip subluxation on both sides. The patient was evaluated after 9 years and 10 months. The progressive lateral migration of the femoral head seemed to have been unaffected by this type of osteotomy.
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PMID:Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome. 948 54

The Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive skeletal dysplasia characterized by short-trunk dwarfism and mental retardation. A 49-year-old male with DMCS underwent resection arthroplasty for contracture of the right hip joint under general anesthesia using thiamylal, nitrous oxide, sevoflurane, and vecuronium. Although he was assumed to have difficult airway due to short neck, macroglossia, and disturbance of neck flexion, tracheal intubation was not difficult. No complications including malignant hyperthermia were observed during the 95 min of the operation.
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PMID:[Anesthetic management of a patient with Dyggve-Melchior-Clausen syndrome]. 1171 46

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. We performed a genomewide scan in a consanguineous family from Guam and found evidence of linkage to loci on chromosome 18q12. Analysis of a second, smaller family was also consistent with linkage to this region, producing a maximum combined two-point LOD score of 3.04 at a recombination fraction of 0 for the marker at locus D18S450. A 10.7-cM region containing the disease gene was defined by recombination events in two affected individuals in the larger family. Furthermore, all affected children in the larger family were homozygous for a subset of marker loci within this region, defining a 1.5-cM interval likely to contain the defective gene. Analysis of three small, unrelated families with Dyggve-Melchior-Clausen syndrome, a radiographically identical disorder with the additional clinical finding of mental retardation, provided evidence of linkage to the same region, a result consistent with the hypothesis that the two disorders are allelic.
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PMID:Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. 1216 21

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 chondrocytes have shown widened cisternae of rough endoplasmic reticulum and biochemical analyses have shown accumulation of glucosaminoglycan in cartilage, but the pathogenesis of DMC remains unexplained. Here, we report on the homozygosity mapping of a DMC gene to chromosome 18q21.1 in seven inbred families (Zmax=9.65 at theta=0 at locus D18S1126) in the genetic interval (1.8 cM) defined by loci D18S455 and D18S363. Despite the various geographical origins of the families reported here (Morocco, Tunisia, Portugal, and Lebanon), this condition was genetically homogeneous in our series. Continuing studies will hopefully lead to the identification of the disease causing gene.
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PMID:Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. 1236 26

Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic features and cartilage histology in DMC and SMC are identical. However, patients with DMC exhibit significant developmental delay and mental retardation, the major features that distinguish the two conditions. Linkage studies localized the SMC and DMC disease genes to chromosome 18q12-21.1, providing evidence suggesting that they are allelic disorders. Sequence analysis of the coding exons of the FLJ90130 gene, a highly evolutionarily conserved gene within the recombination interval defined in the linkage study, identified mutations in SMC and DMC patients. The affected individuals in two consanguinous DMC families were homozygous for a stop codon mutation and a frameshift mutation, respectively, demonstrating that DMC represents the FLJ90130-null phenotype. The data confirm the hypothesis that SMC and DMC are allelic disorders and identify a gene necessary for normal skeletal development and brain function.
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PMID:Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 1249 Dec 25


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