ArticleJournal of orthopaedic case reports2021
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
Article in Journal of orthopaedic case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.Arthroplasty today · 2024Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC. CASE REPORT: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years' duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome.
conclusionThe radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC.
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