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, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the short rib polydactyly syndromes ref.
Epidemiology
Autosomal recessive inheritance with estimated estimated incidence at at around 1:70,000 births ref.
Pathology
Genetics
- thought to carry an autosomal recessive inheritance8
Complications
- development ofpulmonary hypoplasia
- renal failure from cystic renal disease
- development ofhepatic cirrhosis
Radiologic features:
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
antenatallyantenatally - high riding
claviclesclavicles ("handlebar clavicles")12 irregular costochondral junctions13
- short narrow elongated chest shape (can be bell shaped): may be seen as a narrow fetal thorax
- other skeletal
- dysplastic acetabula with flat acetabular roof13
- trident acetabula
- short and flared illiac bones13
- ischial and pubic bones with medial and lateral spurs13
- premature closure of capital femoral epiphysis
- short broad phallanges
- short distal limbs (acromelic dwarfism)
- polydactyly (often post axial): 14% 4
- coned ephiphyses
Abdominopelvic
- cystic renal disease
- cystic pancreatic disease 9
- hepatic dysfunction9,11
Treatment and prognosis
The prognosis can be variable as a result of the marked phenotypic variation. In those who survive severe pulmonary symptoms in first year of life, there can be an improvement improvement in the skeletal and 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
-<p><strong>Asphyxiating thoracic dysplasia</strong> (also known as <strong>Jeune syndrome</strong>) is a type of rare <a href="/articles/short-limb-skeletal-dysplasia">short limb skeletal dysplasia</a>, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the <a href="/articles/short-rib-polydactyly-syndrome">short rib polydactyly syndromes</a> <sup>ref</sup>.</p><h4>Epidemiology</h4><p>Autosomal recessive inheritance with estimated incidence at around 1:70,000 births <sup>ref</sup>.</p><h4>Pathology</h4><h5>Genetics</h5><ul><li>thought to carry an autosomal recessive inheritance <sup>8</sup>- +<p><strong>Asphyxiating thoracic dysplasia</strong> (also known as <strong>Jeune syndrome</strong>) is a type of rare <a href="/articles/short-limb-skeletal-dysplasia">short limb skeletal dysplasia</a>, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the <a href="/articles/short-rib-polydactyly-syndrome">short rib polydactyly syndromes</a> <sup>ref</sup>.</p><h4>Epidemiology</h4><p>Autosomal recessive inheritance with estimated incidence at around 1:70,000 births <sup>ref</sup>.</p><h4>Pathology</h4><h5>Genetics</h5><ul><li>thought to carry an autosomal recessive inheritance <sup>8</sup>
-<li>development of <a href="/articles/pulmonary-hypoplasia">pulmonary hypoplasia</a>- +<li>development of <a href="/articles/pulmonary-hypoplasia">pulmonary hypoplasia</a>
-<li>development of <a href="/articles/hepatic-cirrhosis">hepatic cirrhosis</a>- +<li>development of <a href="/articles/hepatic-cirrhosis">hepatic cirrhosis</a>
-</ul><h4>Radiologic features:</h4><p>There can be significant variation in clinical spectrum. Features include:</p><h5>Skeletal</h5><ul>- +</ul><h4>Radiologic features</h4><p>There can be significant variation in clinical spectrum. Features include:</p><h5>Skeletal</h5><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 href="/articles/handlebar-clavicles"> clavicles</a>")<sup>12</sup>- +<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 href="/articles/handlebar-clavicles"> clavicles</a>")<sup>12</sup>
- +</li>
- +<li>irregular costochondral junctions<sup>13</sup>
-<li><p>irregular costochondral junctions<sup>13</sup></p></li>-<li>dysplastic acetabula with flat acetabular roof<sup>13</sup>- +<li>dysplastic acetabula with flat acetabular roof <sup>13</sup>
-<li>short and flared illiac bones<sup>13</sup>- +<li>short and flared illiac bones <sup>13</sup>
-<li>ischial and pubic bones with medial and lateral spurs<sup>13</sup>- +<li>ischial and pubic bones with medial and lateral spurs <sup>13</sup>
-<li>hepatic dysfunction <sup>9,11</sup>- +<li>hepatic dysfunction <sup>9,11</sup>
-</ul><h4>Treatment and prognosis</h4><p>The prognosis can be variable as a result of the marked phenotypic variation. In those who survive severe pulmonary symptoms in first year of life, there can be an improvement in the skeletal and thoracic deformity with relative growth of the thoracic cage post birth. Most of the mortality is due to respiratory compromise.</p><h4>History and etymology</h4><p>It was first described by <strong>M Jeune </strong>in 1955 <sup>2</sup>.</p><h4>See also</h4><ul><li><a href="/articles/short-rib-polydactyly-syndromes">short rib polydactyly syndromes</a></li></ul>- +</ul><h4>Treatment and prognosis</h4><p>The prognosis can be variable as a result of the marked phenotypic variation. In those who survive severe pulmonary symptoms in first year of life, there can be an improvement in the skeletal and thoracic deformity with relative growth of the thoracic cage post birth. Most of the mortality is due to respiratory compromise.</p><h4>History and etymology</h4><p>It was first described by <strong>M Jeune </strong>in 1955 <sup>2</sup>.</p><h4>See also</h4><ul><li><a href="/articles/short-rib-polydactyly-syndromes">short rib polydactyly syndromes</a></li></ul>