Recurrence of Achondroplasia

摘要

Abstract: Achondroplasia, a nonlethal form of chondrodysplasia, is the most common form of shortlimb dwarfism. It is inherited as a mendelian autosomal dominant trait with complete penetrance. Approximately 80% of cases are due to new or de novo dominant mutations. An unusual case of recurrent Achondroplasia, in the same couple due to denovo gene mutation, as both parents were healthy and young. Diagnosis was based on prenatal ultrasound and clinical examination of the baby. Keywords: Achondr.