Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts.
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.
Başbuğ
Mustafa
M
Department of Obstetrics and Gynecology, Erciyes University Medical Faculty, Kayseri, Turkey. mbasbug@erciyes.edu.tr
Serin
Ibrahim Serdar
IS
Ozçelik
Bulent
B
Guneş
Tamer
T
Akçakuş
Mustafa
M
Tayyar
Mehmet
M
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