Jeune- syndrome Q77.-

First description in 1954 by the French pediatrician Mathis Jeune.

Jeune syndrome, also known as "asphyxiating thoracic dysplasia", was first described by Jeune et al. in 1954 (Engelskirchen 2006).

It is an autosomal recessive inheritance caused by mutations on different chromosomes:

• Depending on the underlying mutation, the following types can be distinguished:
• Type 1 with mutations on chromosome 15 gene locus q13[5].
• Type 2 with mutations in the IFT80 gene on chromosome 3 gene locus q25.33[6]
• Type 3 (Verma-Naumoff syndrome) with mutations in the DYNC2H1 gene on chromosome 11 gene locus q22.3[7]
• Type 4 with mutations in the TTC21B gene on chromosome 2 gene locus q24.3[8]
• Type 5 with mutations in the WDR19 gene on chromosome 4 gene locus p14[9]
• Type 10 with mutations in the IFT172 gene on chromosome 2 gene locus p23.3[10]
• Type 11 with mutations in the WDR34 gene on chromosome 9 gene locus q34.11[11]

Each of these genes encodes a flagellar transport protein, and there may be other, as yet unknown mutations.

The clinical picture is characterized by the following symptoms:

• narrow, long thorax
• shortened ribs
• pronounced hypoplasia of the lungs
• short stature
• shortening of the extremities
• nephronophthisis
• fibrocytic changes of the liver and pancreas
• (Engelskirchen 2006)

Thoracic dilation plastic surgery (Engelskirchen 2006)

Since hardly any long-term observations are available, the prognosis cannot be assessed in more detail (Engelskirchen 2006).

1. Bartels H (2013) Spatial damage of the kidney in sonographic images: textbook and atlas. Springer Verlag 121
2. Engelskirchen R et al (2006) Asphyxiating thoracic dysplasia (Jeune syndrome): successful multisession correction. Monthly Journal of Pediatrics (12)
3. Entezami M et al. (2002) Sonographic diagnosis of malformation: teaching atlas of fetal ultrasonography. Selected syndromes and associations. Thieme Verlag 245
4. Risler T et al (2008) Specialist nephrology. Elsevier Urban and Fischer Publishers 372 - 373, 752 - 754.
5. Schmidt F et al. (2006) Rosiglitazone long-term therapy in patients with Alström- Hallgren syndrome. Diabetology and Metabolism 1 (3) 168 - 172.
6. Sohn C et al (2013) Ultrasound in gynecology and obstetrics. Thieme Verlag 243 - 244