title: Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
abstract: Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated.
authors.affiliation: Department of Radiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: B S
authors.initials: BS
authors.lastname: Hertzberg
authors.forename: M A
authors.initials: MA
authors.lastname: Kliewer
authors.forename: M
authors.initials: M
authors.lastname: Decker
authors.forename: C R
authors.initials: CR
authors.lastname: Miller
authors.forename: J D
authors.initials: JD
authors.lastname: Bowie
mesh_terms: D000328:Adult; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D016216:Ultrasonography, Prenatal