title: Birth prevalence rates of skeletal dysplasias.
abstract: This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population-based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 x 10(-5) per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.
authors: Institut de Puericulture, Strasbourg, France.
authors: C
authors: C
authors: Stoll
authors: B
authors: B
authors: Dott
authors: M P
authors: MP
authors: Roth
authors: Y
authors: Y
authors: Alembik
mesh_terms: D003430:Cross-Sectional Studies; D005260:Female; D005602:France; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000453:epidemiology* / Q000401:mortality; D011446:Prospective Studies