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: Mustafa Başbuğ, Ibrahim Serdar Serin, Bulent Ozçelik, Tamer Guneş, Mustafa Akçakuş, Mehmet Tayyar
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) 2005 May-Jun Vol. 20 Issue 3 Pg. 171-4 ISSN: 1015-3837 [Print] Switzerland
• PMID: 15824492 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright (c) 2005 S. Karger AG, Basel.

Topics

• Adult
• Arthrography
• Cataract (diagnostic imaging)
• Chondrodysplasia Punctata, Rhizomelic (diagnostic imaging)
• Female
• Hip Joint (abnormalities, diagnostic imaging)
• Humans
• Limb Deformities, Congenital (diagnostic imaging)
• Shoulder Joint (abnormalities, diagnostic imaging)
• Ultrasonography, Prenatal