A 3-month-old male patient presented with respiratory distress since birth. There was rhizomelic shortening of upper limbs, simian crease and clinodactyly on both sides. Respiratory rate 80/minute, with sub costal recession, chest was elongated with short ribs (Fig. 1), fine crepts on deep inspiration, no cardiac murmur, abdomen soft, liver just palpable.

Fig. 1. Jeune syndrome. Note the small, narrow thoracic cage, subcostal recession, rhizomelic shortening of upper limb.	Fig. 2. X-ray chest-Short rib, high position of clavicle.

Anthropometric measurement were weight 3.350 kg, Head circumference 38 cms, chest circumference 27.5 cm, length 56 cms, (US: LS ratio was 1.6). X-ray chest revealed short horizontal ribs, elongated chest with high placed clavicles (Fig. 2). X-ray pelvis depicted hypoplastic iliac wings, horizontal acetabular roof, and spur like projection at lower margin of sciatic notches. Head and abdominal sonography were normal. A diagnosis of Jeune syndrome was made.

Jeune syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, predominantly rhizomelic brachemelia, renal and hepatic anomalies. Half of the cases have polydactyly. Radiological confirmation of diagnosis is essential. The ribs are short, and the ilia of the pelvis are small, horizontal acetabular roof medial bony projection is visible to give a trident appearance. Premature ossification of capital femoral epiphysis is seen. New born with thoracic dysplasia associated with lung dysplasia usually die during the neonatal period due to respiratory failure. In those who survive, chronic renal failure is a common cause of death. Renal histopathology reveals cystic changes later peri-glomerular fibrosis. Cirrhosis liver is also one of the cause of early morbidity. At present there is no biochemical or genetic marker, which could be used for prenatal diagnosis of ATD. However, prenatal ultranographic measure-ments like TC/ AC (Thoracic circumference/ Abdominal circumference) and RCP (Rib Cage Perimeter)/TC helps in diagnosing skeletal dysplasia associated with small thorax.

Anoop Verma,
H.S. Gurudatta,
Swapnil Nursing & Research Center,
Civil Lines, Raipur, Chattisgar,
India.
E-mail: [email protected]