ASPHYXIATING THORACIC

DYSPLASIA (JEUNE

SYNDROME)-A RARE CASE

BY Dr. VIJAY JWALA SHARMA

JR-II, DEPARTMENT OF RADIODIAGNOSIS,

Dr. MANALI RAHALKAR (AP)

B.J.GOVT.M.C.SASSOON HOSPITAL PUNE

INTRODUCTION

• Asphyxiating thoracic dysplasia or Jeune syndrome, is a type of rare short limb dysplasia which is primarily characterized by short constricted narrow thoracic cavity, cyst renal dysplasia and skeletal dysplasia.

• Incidence is 1 in 70,000 to 130,000 births.

• The perinatal mortality is high as a result of pulmonary hypoplasia.

• Those who survive develop renal & hepatic fibrosis.

Clinical spectrum

Thoracic:

1. Short narrow elongated chest- may be seen as narrow fetal thorax antenatally.

Other skeletal:

1. Polydactyl (often post axial)

2. Dysplastic acetabulum

3. Short distal limbs (rhizomelic brachymelia)

Abdomino-pelvic:

1. Cystic renal disease

2. Cystic pancreatic disease

3. Hepatic cysfunction

Short narrow chest

thorax

Polydactyly

AF

Dysplastic lower limb (a)

UB

Dysplastic lower limb (b)

Dysplastic upper limb (a)

AF

Dysplastic upper limb (b)

Pelvis

Multicystic dysplastic kidney

UB

Pathology

It is thought to be an autosomal

recessive condition.

Complication

Development of pulmonary hypoplasia

Renal failure due to cystic renal disease

Development of hepatic fibrosis.

Prognosis

• Most of patients die to respiratory compromise.

• Those who survive can have improvement in thoracic deformity due to growth of thoracic cage after birth.

• However patient has to live with limb deformity.