In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements.
Publication/Presentation Date
3-1-1986
Abstract
Seven cases of heterozygous achondroplasia were examined in utero. Although the head shape and growth were normal, the initially normal femur length showed a decrease in growth and fell below the lower 99 per cent confidence limit in all cases. The time of presentation of achondroplasia varied between 21 and 27 gestational weeks. This study suggests that the diagnosis of achondroplasia can be reasonably made when the femur is abnormally short. When the femoral length is appropriate prior to 30 weeks, more caution should be taken in interpretation. Because of the variability in presentation, the fetus could be normal or still could be affected.
Volume
5
Issue
3
First Page
137
Last Page
140
ISSN
0278-4297
Published In/Presented At
Kurtz, A. B., Filly, R. A., Wapner, R. J., Golbus, M. S., Rifkin, M. R., Callen, P. W., & Pasto, M. E. (1986). In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 5(3), 137–140. https://doi.org/10.7863/jum.1986.5.3.137
Disciplines
Medicine and Health Sciences
PubMedID
3517360
Department(s)
Department of Obstetrics and Gynecology
Document Type
Article