ArticleThe journal of obstetrics and gynaecology research2022
Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.
Article in The journal of obstetrics and gynaecology research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Polyhydramnios associated with rare genetic syndromes: two case reports.Journal of medical case reports · 2024Article
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10 authors at 2 institutions in 1 country.
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Abstract
Kagami-Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell-shaped thorax. Although the coat-hanger appearance of the ribs on postnatal X-rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell-shaped narrow thorax. The coat-hanger angle (CHA) measured at the sixth thoracic vertebrae and the ribs using three-dimensional (3D) ultrasonography was 39°, reflecting the coat-hanger appearance of the ribs. Segmental uniparental disomy chromosome 14 (UPD(14)pat) was confirmed by a methylation analysis and microsatellite analysis after birth. The median CHA (minimum, maximum) in 25 normal fetuses was 19 (9, 26) degrees, and a sonographic CHA of 30° may be a border value for diagnosing KOS14. When the combination of omphalocele and polyhydramnios is found prenatally, 3D ultrasonography for CHA might aid in the differential diagnosis of KOS14.
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