A Rare Skeletal Dysplasia: Achondrogenesis Type 1

Abstract

Achondrogenesis is a rare osteochondrodysplasia that is characterized by severe shortness of extremities, a short trunk, macrochephaly and a protuberant abdomen. There are 4 types of achondrogeneses. Achondrogenesis type 1 is an autosomal recessive condition with a fatal course. In this article, we are presenting a case of skeletal dysplasia that was detected during an obstetric ultrasonographic check in the 16 th gestational week with clinical and radiological results suggestive of achondrogenesis type 1A (Parenti-Fraccaro). Skeletal dysplasias might be detected as of the beginning of the second trimester. With genetic inheritance and a fatal course, achondrogenesis must be detected prenatally with a view to talking to the family and suggesting the termination of the pregnancy.