Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type

✍ Scribed by Joseph R. Wax; Julie Albanese; Rosemarie Smith; Michael G. Pinette; Renee Chard; Angelina Cartin

• Book ID: 102887961
• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 933 KB
• Volume: 39
• Category: Article
• ISSN: 0091-2751
• DOI: 10.1002/jcu.20868

✦ Synopsis

Abstract

Dyssegmental dysplasia is a rare, lethal, autosomal‐recessive disorder characterized by severe camptomicromelia and anisospondyly. We describe the prenatal sonographic findings in an index case of the Rolland‐Desbuquois type, with the diagnosis made by neonatal skeletal survey. Recognition of the unique vertebral disorganization may be used to prenatally distinguish dyssegmental dysplasia from other severe short‐limbed conditions. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011;