𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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.


📜 SIMILAR VOLUMES


First-trimester prenatal diagnosis of El
✍ I. Torrente; M. Mangino; A. de Luca; R. Mingarelli; M. Gennarelli; A. Giannotti; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

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

Prenatal sonographic diagnosis of Ellis-
✍ Tongsong, Theera; Chanprapaph, Pharuhus 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 2 views

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

Chondroectodermal dysplasia (Ellis-van C
✍ Rosemberg, Sérgio ;Carneiro, Paulo C. ;Zerbini, Maria Claudia N. ;Gonzalez, Clau 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB

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.