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- Title
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.
- Authors
Auslander, R.; Nevo, O.; Diukman, R.; Morrad, E.; Bardicef, M.; Abramovici, H.
- Abstract
Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and post-natal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.
- Subjects
DIAGNOSTIC ultrasonic imaging; PREGNANCY complications
- Publication
Ultrasound in Obstetrics & Gynecology, 1999, Vol 13, Issue 6, p450
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1046/j.1469-0705.1999.13060450.x