title: Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts.
abstract: Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling. This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia punctata (type 1). Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling.
authors.affiliation: Department of Obstetrics and Gynecology, Erciyes University Medical Faculty, Kayseri, Turkey. mbasbug@erciyes.edu.tr
authors.forename: Mustafa
authors.initials: M
authors.lastname: Başbuğ
authors.forename: Ibrahim Serdar
authors.initials: IS
authors.lastname: Serin
authors.forename: Bulent
authors.initials: B
authors.lastname: Ozçelik
authors.forename: Tamer
authors.initials: T
authors.lastname: Guneş
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akçakuş
authors.forename: Mehmet
authors.initials: M
authors.lastname: Tayyar
mesh_terms: D000328:Adult; D001175:Arthrography; D002386:Cataract / Q000000981:diagnostic imaging*; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000000981:diagnostic imaging*; D005260:Female; D006621:Hip Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D012785:Shoulder Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal