Prevalence of lethal osteochondrodysplasias in Denmark
โ Scribed by Andersen, Poul Erik
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 598 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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Blomstrand chondrodysplasia is a rare lethal skeletal dysplasia with presumed autosomal-recessive inheritance. A family with 2 affected fetuses was studied. One fetus demonstrated a severe skeletal dysplasia at routine transabdominal ultrasound examination at 18.5 weeks of gestation. The pregnancy w
We report on a previously undescribed form of lethal osteosclerotic skeletal dysplasia in sibs from nonconsanguineous parents. Radiographic findings included increased density in the base of the skull, clavicles, vertebrae, ribs, and the metaphyseal regions of the long bones. There was midface hypop