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.
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.
Authors: Melita D Irving; Karin Buiting; Deniz Kanber; Celia Donaghue; Reiner Schulz; Amaka Offiah; Shehla N Mohammed; Rebecca J Oakey Journal: Am J Med Genet A Date: 2010-08 Impact factor: 2.802
Authors: V Reid Sutton; William H McAlister; Terry K Bertin; Sara Kaffe; Jin-Chen C Wang; Shoji Yano; Lisa G Shaffer; Brendan Lee; Charles J Epstein; Angela J Villar Journal: Hum Genet Date: 2003-08-21 Impact factor: 4.132
Authors: Joerg Mattes; Bruce Whitehead; Thomas Liehr; Ian Wilkinson; John Bear; Kerry Fagan; Paul Craven; Bruce Bennetts; Matthew Edwards Journal: Am J Med Genet A Date: 2007-09-15 Impact factor: 2.802
Authors: David A Stevenson; Arthur R Brothman; Zhong Chen; Pinar Bayrak-Toydemir; Nicola Longo Journal: Am J Med Genet A Date: 2004-09-15 Impact factor: 2.802