1. Prenatal Ultrasonographic Diagnosis of Rhizomelic Chondrodysplasia punctata by Detection of Rhizomelic Shortening and Bilateral Cataracts
- Author
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Mustafa Basbug, Ibrahim Serdar Serin, Mehmet Tayyar, Bülent Özçelik, Mustafa Akcakus, and Tamer Gunes
- Subjects
Adult ,musculoskeletal diseases ,Embryology ,Eye disease ,Limb Deformities, Congenital ,Prenatal diagnosis ,Cataract ,Ultrasonography, Prenatal ,Peroxisomal disorder ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Chondrodysplasia punctata ,Arthrography ,Rhizomelic chondrodysplasia punctata ,Chondrodysplasia Punctata, Rhizomelic ,Shoulder Joint ,business.industry ,Obstetrics and Gynecology ,General Medicine ,Anatomy ,medicine.disease ,Osteochondrodysplasia ,Bilateral Cataracts ,Pediatrics, Perinatology and Child Health ,Female ,Hip Joint ,sense organs ,business ,Epiphyseal stippling - 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. Copyright (C) 2005 S. Karger AG, Basel.
- Published
- 2005
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