𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal sonographic diagnosis of Ellis-van Creveld syndrome

✍ Scribed by Tongsong, Theera; Chanprapaph, Pharuhus

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
395 KB
Volume
28
Category
Article
ISSN
0091-2751

No coin nor oath required. For personal study only.

✦ Synopsis

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 of premature labor. Sonography revealed a live fetus with short long bones, polydactyly in the hands and feet, a narrow thorax with short ribs, and an atrial septal defect. All bony structures were of normal hyperechogenicity. The placenta appeared normal and was located at the posterior uterine wall; the amniotic fluid volume was also normal. These findings led to the diagnosis of short-rib dysplasia, most likely Ellisvan Creveld syndrome. The preterm labor stopped but spontaneously recurred at 35 weeks, when a 2,320-g female infant was vaginally delivered. The infant died of pulmonary insufficiency shortly after birth. Postmortem examination confirmed the prenatal findings. We conclude that Ellis-van Creveld syndrome can be readily diagnosed by prenatal sonography in the third trimester.

πŸ“œ SIMILAR VOLUMES

First-trimester prenatal diagnosis of El
First-trimester prenatal diagnosis of Ellis–van Creveld syndrome using linked microsatellite markers
✍ I. Torrente; M. Mangino; A. de Luca; R. Mingarelli; M. Gennarelli; A. Giannotti; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 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

Dandy-Walker malformation in Ellis-van C
Dandy-Walker malformation in Ellis-van Creveld syndrome
✍ Zangwill, Kenneth M. ;Boal, Danielle K. B. ;Ladda, Roger L. ;Opitz, John M. ;Rey πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 425 KB πŸ‘ 1 views
Prenatal sonographic diagnosis of Holt-O
Prenatal sonographic diagnosis of Holt-Oram syndrome
✍ Tongsong, Theera; Chanprapaph, Pharuhus πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 246 KB πŸ‘ 1 views

Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revea

Ellis–van Creveld syndrome: examination
Ellis–van Creveld syndrome: examination at 15 weeks' gestation
✍ M. Guschmann; D. Horn; A. Gasiorek-Wiens; M. Urban; J. Kunze; M. Vogel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 300 KB πŸ‘ 1 views

In 1940, Ellis and van Creveld defined a syndrome they referred to as chondro-ectodermal dysplasia. This autosomal recessive condition, now usually referred to as Ellis-van Creveld syndrome (EVC), comprises bilateral postaxial polydactyly, a chondrodysplasia, characterized by shortness of limbs, and