Journal
PEDIATRIC RADIOLOGY
Volume 41, Issue 3, Pages 389-393Publisher
SPRINGER
DOI: 10.1007/s00247-010-1875-4
Keywords
Raine syndrome; Binder syndrome; Chondrodysplasia punctata; Pyriform aperture stenosis; Child
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We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.
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