Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.

BACKGROUND

The "coat-hanger" sign of the ribs with a bell-shaped thorax has been known as a radiological hallmark of the paternal uniparental disomy 14 (upd(14)pat).

OBJECTIVE

To quantitatively determine the differences in thoracic deformity between upd(14)pat and other bone diseases with thoracic hypoplasia and to establish the age-dependent evolution.

MATERIALS AND METHODS

The subjects comprised 11 children with upd(14)pat. The angle between the 6th posterior rib and the horizontal axis was measured (coat hanger angle; CHA). The ratio of the mid- to widest thorax diameter (M/W ratio) was calculated for the bell-shaped thorax.

RESULTS

CHA ranged from +28.5 to 45° (mean; 35.1° ± 5.2) in upd(14)pat, and from -19.8 to 21° (-3.3 ± 13°) in bone dysplasias (p < 0.01). The M/W ratio ranged from 58% to 93% (75.4 ± 10) in upd(14)pat, and from 80% to 92% (86.8 ± 3.3) in bone dysplasias (p < 0.05). Serial radiographs revealed that CHA remained constant during early childhood, while the M/W ratio gradually increased with age.

CONCLUSION

The "coat-hanger" sign of upd(14)pat provides a distinctive radiological gestalt that makes it possible to differentiate the disorder from other skeletal dysplasias. By contrast, the bell-shaped thorax is significant only in the neonatal period.