Achondroplasia and Hypochondroplasia

Abstract

Many women with skeletal dysplasias, such as achondroplasia and hypochondroplasia, choose to become pregnant. These women and their partners should receive pre-conception genetic counseling. Once the woman becomes pregnant, a multidisciplinary team at a tertiary care hospital should mange her antepartum care and birth process. An anesthesia plan should be in place that addressed kyphosis, weight based medications and the possibility of a Cesarean Section. Patients should be monitored for respiratory compromise from the gravid uterus on a smaller body frame. Neonatology must be available to help care for the infant. With a supportive antepartum and postpartum care plan, most women with skeletal dysplasia do well and resume routine OBGYN care after birth. This review contains 5 figures, and 21 references. Keywords: Maternal Achondroplasia, Maternal Hypochondroplasia, Inheritance patterns, short limb dwarfism, high risk pregnancy, autosomal dominant inheritance