HUM-MOLGEN DIAGnostics/Clinical Research

7 May 1997

I would like to hear from anyone who has experience with achondroplasia/hypochondroplasia complex. We are following a couple, now at 32 weeks gestation. The mother has hypochondroplasia, the father has achondroplasia (both proven by molecular testing). We have not done molecular testing on the fetus; however, by ultrasound it appears to be severely affected. The couple is faced with making decisions about management after delivery. I have found only one case describing survival past the newborn period. Does anyone have any clinical experience to share? thank you in advance for any assistance.

Marlene Huggins, MSc
Genetic Counsellor
Ontario, Canada