ArticlePediatric radiology2011
Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.
Article in Pediatric radiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.The journal of obstetrics and gynaecology research · 2022Article
- Kagami-Ogata syndrome: a case report.Journal of medical case reports · 2022Article
- Kagami-Ogata Syndrome: Case Series and Review of Literature.AJP reports · 2021Article
- Skeletal ciliopathies: a pattern recognition approach.Japanese journal of radiology · 2020Review
- Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report.Journal of medical case reports · 2019Article
- Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report.JA clinical reports · 2018Article
- Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).European journal of human genetics : EJHG · 2015Article
- Paternal uniparental disomy of chromosome 14.Journal of perinatology : official journal of the California Perinatal Association · 2014Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe "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).
objectiveTo 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
methodsThe 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.
resultsCHA 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.
conclusionThe "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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