Prenatal Diagnosis of Lethal Shor-limbed Dwartism

Abstract

Nine of 23 established types of short-limbed dwarfism are always incompatible with life. Current state-of-the-art ultrasonic equipment and techniques combined with the establishment of longitudinal growth curves for fetal long bones have made possible the early prenatal diagnosis of lethal skeletal dysplasias. In addition to significantly shortened and/or bowel femurs, features include hydramnios, fetal hydrops, and protuberant fetal abdomen, all easily identifiable with ultrasound. The availability of early prenatal diagnosis of these skeletal dysplasias has placed increased importance on early ultrasonic evaluation of at-risk populations, providing an additional diagnostic parameter to complete the genetic workup.