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. 2011 Aug;41(8):1013-9.
doi: 10.1007/s00247-011-2132-1. Epub 2011 May 24.

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

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Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

Osamu Miyazaki et al. Pediatr Radiol. 2011 Aug.

Abstract

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.

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