Kniest dysplasia
Updates to Article Attributes
Body
was changed:
Kniest dysplasia is rare type of short limbed skeletal dysplasia.
Pathology
Genetics
It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen (therefore classified as a type II collegenopathy).
Radiographic features
General
Described features include
- unossified epiphyses
- absent ossification of the pubic bones
- delayed ossification of the femoral heads
- flatted ovoid vertebral bodies +/- coronal clefts
dumbelldumb-bell shaped femurs- short limbs: micromelia
- exaggerated metaphyseal flaring
- enlargement of the epiphysis with cloud-like calcifications at the physis
- metacarpal epiphyseal flattening
- enlargement of the metacarpal and proximal phalangeal ends
History and etymology
It is named after Wilhelm Kniest, German paediatrician who first described the condition in 1952 4,8.
-<p><strong>Kniest dysplasia</strong> is rare type of short limbed <a href="/articles/skeletal-dysplasia">skeletal dysplasia</a>.</p><h4>Pathology</h4><h5>Genetics</h5><p>It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen (therefore classified as a <a href="/articles/type-ii-collegenopathy">type II collegenopathy</a>).</p><h4>Radiographic features</h4><h5>General</h5><p>Described features include</p><ul>- +<p><strong>Kniest dysplasia</strong> is rare type of short limbed <a href="/articles/skeletal-dysplasia">skeletal dysplasia</a>.</p><h4>Pathology</h4><h5>Genetics</h5><p>It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen (therefore classified as a <a href="/articles/type-ii-collagenopathy">type II collegenopathy</a>).</p><h4>Radiographic features</h4><h5>General</h5><p>Described features include</p><ul>
-<li><a href="/articles/dumbell-shaped-femurs">dumbell shaped femurs</a></li>- +<li><a href="/articles/dumbell-shaped-femurs">dumb-bell shaped femurs</a></li>
-<li>exaggerated <a href="/articles/metaphyseal-flaring">metaphyseal flaring</a>- +<li>exaggerated <a href="/articles/metaphyseal-flaring-1">metaphyseal flaring</a>
-</ul><h4>History and etymology</h4><p>It is named after <strong> Wilhelm Kniest, </strong>German paediatrician who first described the condition in 1952<sup> 4,8</sup>.</p>- +<li>enlargement of the epiphysis with cloud-like calcifications at the physis</li>
- +<li>metacarpal epiphyseal flattening </li>
- +<li>enlargement of the metacarpal and proximal phalangeal ends</li>
- +</ul><h4>History and etymology</h4><p>It is named after <strong> Wilhelm Kniest, </strong>German paediatrician who first described the condition in 1952<sup> 4,8</sup>.</p>
References changed:
- 9.Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. (2014) World Journal of Radiology. 6 (10): 808. <a href="https://doi.org/10.4329/wjr.v6.i10.808">doi:10.4329/wjr.v6.i10.808</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25349664">Pubmed</a> <span class="ref_v4"></span>
- 10. Lachman RS, Rimoin DL, Hollister DW, Dorst JP, Siggers DC, McAlister W, Kaufman RL, Langer LO. The Kniest syndrome. (1975) The American journal of roentgenology, radium therapy, and nuclear medicine. 123 (4): 805-14. <a href="https://www.ncbi.nlm.nih.gov/pubmed/1147148">Pubmed</a> <span class="ref_v4"></span>
- 11. Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. (2007) Indian pediatrics. 44 (12): 931-3. <a href="https://www.ncbi.nlm.nih.gov/pubmed/18175850">Pubmed</a> <span class="ref_v4"></span>
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