title: Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type.
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.
authors: Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA. waxj@mmc.org
authors: Joseph R
authors: JR
authors: Wax
authors: Julie
authors: J
authors: Albanese
authors: Rosemarie
authors: R
authors: Smith
authors: Michael G
authors: MG
authors: Pinette
authors: Renee
authors: R
authors: Chard
authors: Angelina
authors: A
authors: Cartin
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging*; D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging*; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D055815:Young Adult