Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia (also known as the 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 spectrum

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.
• other skeletal
  • polydactyly (often post axial) : 14 % ⁴
  • dysplastic acetabula
  • short distal limbs (rhizomelic brachymelia)

Abdomino-pelvic

• 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

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.

Etymology

It was first described by M Jeune in 1955 ².

See also

• short rib polydactyly syndromes