In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements.
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.
D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005269:Femur / Q000196:embryology*; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography