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, which encodes for making a protein that forms type II collagen (therefore classified as a type II collegenopathycollagenopathy).
Radiographic features
General
Described features include
-
unossifiednon-ossified epiphyses - absent ossification of the pubic bones
- delayed ossification of the femoral heads
- flatted ovoid vertebral bodies +/- coronal clefts
- dumb-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(1919-fl.1997) 12, aGerman 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-collagenopathy">type II collegenopathy</a>).</p><h4>Radiographic features</h4><h5>General</h5><p>Described features include</p><ul>-<li>unossified epiphyses </li>-<li>absent ossification of the pubic bones</li>- +<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 <em>COL2A1</em> gene, which encodes for type II collagen (therefore classified as a <a href="/articles/type-ii-collagenopathy">type II collagenopathy</a>).</p><h4>Radiographic features</h4><h5>General</h5><p>Described features include</p><ul>
- +<li>non-ossified epiphyses </li>
- +<li>absent ossification of the <a href="/articles/pubis">pubic bones</a>
- +</li>
-</ul><h4>History and etymology</h4><p>It is named after <strong> Wilhelm Kniest, a </strong>German paediatrician who first described the condition in 1952<sup> 4,8</sup>.</p>- +</ul><h4>History and etymology</h4><p>It is named after <strong> Wilhelm Kniest </strong>(1919-fl.1997) <sup>12</sup>, a<strong> </strong>German paediatrician who first described the condition in 1952<sup> 4,8</sup>.</p>
References changed:
- 12. Greta Beighton. The Person Behind the Syndrome. (2012) <a href="https://books.google.co.uk/books?vid=ISBN9781447109259">ISBN: 9781447109259</a><span class="ref_v4"></span>
Updates to Synonym Attributes
Title
was changed:
Kniest's's dysplasia
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