First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis–van Creveld syndrome) with ultrasound
✍ Scribed by Dr L. Dugoff; G. Thieme; J. C. Hobbins
- Book ID
- 114434796
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 62 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0960-7692
No coin nor oath required. For personal study only.
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We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at
Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because
We report on a 19-month-old girl with chondroectodermal dysplasia (Ellis-van Creveld) and other previously undescribed visceral and central nervous system anomalies. These anomalies include cerebral heterotopias, renal agenesis, and congenital megaureter.