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- Title
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts.
- Authors
Başbuğ, Mustafa; Serin, İbrahim Serdar; Özçelik, Bülent; Güneş, Tamer; Akçakuş, Mustafa; Tayyar, Mehmet; Başbuğ, Mustafa; Serin, Ibrahim Serdar; Ozçelik, Bulent; Guneş, Tamer; Akçakuş, Mustafa
- 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.
- Subjects
PRENATAL diagnosis; FETAL diseases; ULTRASONIC imaging; PREGNANCY complications; ULTRASONICS
- Publication
Fetal Diagnosis & Therapy, 2005, Vol 20, Issue 3, p171
- ISSN
1015-3837
- Publication type
journal article
- DOI
10.1159/000083899