Seckel syndrome
Updates to Article Attributes
Body
was changed:
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
Epidemiology
The estimated incidence is ~ 1~1:10,000. There is no recognised gender predilection.
Clinical presentation
It is clinically characterised by many features including:
- intrauterine growth restriction
- postnatal growth delay
- microcephaly 7
- mental retardation
- facial dysmorphisms
- micrognathia
- recessed forehead
- large beaked nose
Pathology
It is considered a type of primordial dwarfism.
Genetics
The abnormal genes have been mapped to two loci on chromosomes 3q and 18p 7,8.
Associations
- congenital brain malformations
- intracranial aneurysms
Radiographic features
May show any of the of the clinical features shown above.Additional skeletal features may include:
- ivory epiphyses 3
- cone-shaped epiphyses in the proximal phalanges 3.
- absent thumb
History and etymology
Named after Helmut Paul George Seckel (1900-1960)9,American physiciana German-American paediatrician.
-<p><strong>Seckel syndrome</strong> is an autosomal recessive congenital dwarfing disorder.</p><h4>Epidemiology</h4><p>The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.</p><h4>Clinical presentation</h4><p>It is clinically characterised by many features including</p><ul>- +<p><strong>Seckel syndrome</strong> is an <a title="Autosomal recessive" href="/articles/autosomal-recessive">autosomal recessive</a> congenital dwarfing disorder.</p><h4>Epidemiology</h4><p>The estimated incidence is ~1:10,000. There is no recognised gender predilection.</p><h4>Clinical presentation</h4><p>It is clinically characterised by many features including:</p><ul>
-</ul><h4>Radiographic features</h4><p>May show any of the of the clinical features shown above. Additional skeletal features may include:</p><ul>- +</ul><h4>Radiographic features</h4><p>May show any of the clinical features above.<br>Additional skeletal features may include:</p><ul>
-</ul><h4>History and etymology</h4><p>Named after <strong>Helmut Paul George Seckel </strong>(1900-1960),<strong> </strong>American physician.</p>- +</ul><h4>History and etymology</h4><p>Named after <strong>Helmut Paul George Seckel </strong>(1900-1960) <sup>9</sup>,<strong> </strong>a German-American paediatrician.</p>
References changed:
- 9. William Alexander Newman Dorland. Dorland's Illustrated Medical Dictionary. (2018) <a href="https://books.google.co.uk/books?vid=ISBN9781416023647">ISBN: 9781416023647</a><span class="ref_v4"></span>
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