Asphyxiating thoracic dysplasia
Updates to Article Attributes
Asphyxiating thoracic dysplasia (also known as Jeune syndrome) is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cyst renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the short rib polydactyly syndromes ref.
Epidemiology
The estimated incidence is at around 1:70,000 births ref.
Clinical presentation
There can be significant variation in clinical spectrum. Features include:
Skeletal
- thoracic
- short narrow elongated chest shape (can be bell shaped): may be seen as a narrow fetal thorax antenatally
- high riding clavicles ("handlebar clavicles")12
- other skeletal
- polydactyly (often post axial): 14% 4
- dysplastic acetabula
- short distal limbs (rhizomelic brachymelia)
Abdominopelvic
- cystic renal disease
- cystic pancreatic disease 9
- hepatic dysfunction 9,11
Pathology
Genetics
- thought to carry an autosomal recessive inheritance 8
Complications
- development of pulmonary hypoplasia
- renal failure from cystic renal disease
- development of hepatic cirrhosis
Treatment and prognosis
The prognosis can be variable as a result of the marked phenotypic variation. In those who survive, there can be an improvement in the thoracic deformity with relative growth of the thoracic cage post birth. Most of the mortality is due to respiratory compromise.
History and etymology
It was first described by M Jeune in 1955 2.
See also
-<li>thoracic<ul><li>short narrow elongated chest shape (can be bell shaped): may be seen as a <a href="/articles/narrow-fetal-thorax">narrow fetal thorax </a>antenatally</li></ul>- +<li>thoracic<ul>
- +<li>short narrow elongated chest shape (can be bell shaped): may be seen as a <a href="/articles/narrow-fetal-thorax">narrow fetal thorax </a>antenatally</li>
- +<li>high riding clavicles ("<a href="/articles/handlebar">handlebar</a><a title="handlebar clavicles" href="/articles/handlebar-clavicles"> clavicles</a>")<sup>12</sup>
- +</li>
- +</ul>
References changed:
- 12. Resnick D. Diagnosis of bone and joint disorders. Harcourt Publishers Ltd, a subsidiary of Harcourt International Ltd. ISBN:0721650694. <a href="http://books.google.com/books?vid=ISBN0721650694">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0721650694">Find it at Amazon</a><span class="auto"></span>
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