학술논문
Quantitative assessment of coat‐hanger ribs detected on three‐dimensional ultrasound for prenatal diagnosis of Kagami‐Ogata syndrome.
Document Type
Article
Author
Source
Subject
*CHEST abnormalities
*CHEST (Anatomy)
*PRENATAL diagnosis
*THREE-dimensional imaging
*UMBILICAL hernia
*CHEST X rays
*POLYHYDRAMNIOS
*MAGNETIC resonance imaging
*AMNIOTIC liquid
*DNA methylation
*RARE diseases
*THORACIC vertebrae
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Language
ISSN
1341-8076
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. [ABSTRACT FROM AUTHOR]