title: Raine syndrome: expanding the radiological spectrum.
abstract: 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.
authors.affiliation: Service de Radiologie 2, CHU de Strasbourg Hôpital de Hautepierre, 1 avenue Molière, 67098, Strasbourg, France. meriam.koob@chru-strasbourg.fr
authors.forename: Mériam
authors.initials: M
authors.lastname: Koob
authors.forename: Bérénice
authors.initials: B
authors.lastname: Doray
authors.forename: Mélanie
authors.initials: M
authors.lastname: Fradin
authors.forename: Dominique
authors.initials: D
authors.lastname: Astruc
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dietemann
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000000981:diagnostic imaging; D005094:Exophthalmos / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000000981:diagnostic imaging; D010026:Osteosclerosis / Q000000981:diagnostic imaging; D011859:Radiography