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Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type
Joseph R Wax1, Julie Albanese, Rosemarie Smith
1Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA. waxj@mmc.org
Journal of Clinical Ultrasound : JCU
|September 2, 2011
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.

