Birth prevalence rates of skeletal dysplasias
Authors:
- 1 February 1989
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 35 (2) , 88-92
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 times 10‐5 per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.Keywords
This publication has 5 references indexed in Scilit:
- The birth prevalence rates for the skeletal dysplasias.Journal of Medical Genetics, 1986
- Prenatal diagnosis of hypochondroplasiaPrenatal Diagnosis, 1985
- Prenatal diagnosis of Jeune syndromeAmerican Journal of Medical Genetics, 1985
- Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length.Radiology, 1981
- Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.Journal of Medical Genetics, 1979