Johanson–Blizzard syndrome: a prenatal ultrasonographic diagnosis

Johanson–Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson–Blizzard syndrome in...

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Bibliographic Details
Published in:	Ultrasound in obstetrics & gynecology Vol. 13; no. 6; pp. 450 - 452
Main Authors:	Auslander, R., Nevo, O., Diukman, R., Morrad, E., Bardicef, M., Abramovici, H.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Science Ltd 01-06-1999 Wiley
Subjects:	Adult Anus, Imperforate - diagnostic imaging aplastic cutis congenita Biological and medical sciences Colon, Sigmoid - diagnostic imaging consanguinity Ectodermal Dysplasia Female Fetal Diseases - diagnostic imaging Gynecology. Andrology. Obstetrics Humans hypoplastic alae nasi imperforate anus Johanson–Blizzard syndrome Management. Prenatal diagnosis Medical sciences Nose - abnormalities Pregnancy Pregnancy. Fetus. Placenta prenatal ultrasound diagnosis Syndrome Ultrasonography, Prenatal Sonography Human Maxillofacial Case study Prenatal Complex malformation Autosomal character Echography Digestive diseases Intestinal disease Recessive character Ala nasi Consanguinity Diagnosis Complex syndrome Anorectal disease
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Summary:	Johanson–Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal 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. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0960-7692 1469-0705
DOI:	10.1046/j.1469-0705.1999.13060450.x