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.

Ellis—van Creveld Syndrome

“…Nine of 23 established types of short-limbed dwarfism are always incompatible with life. 5 Other types of skeletal dysplasias that may be considered in the differential diagnosis include achondrogenesis and thanatophoric dwarfism. Achondrogenesis results in markedly decreased ossification of most bones, with the exception of the calvarium.…”

“…Fetal hydrops may also be present. 5 Thanatophoric dysplasia (TD) is the most common lethal skeletal dysplasia, occurring in 1 in 4000 to 1 in 15,000 births. 6 It is of unknown origin and occurs at a ratio of approximately 2:1 in males to females.…”

Information for Authors

“…Journal of Diagnostic Medical Sonography 32 (1) institution of the review committee and an ethics committee reference number. We accept manuscripts that report human and/or animal studies for publication only if it is made clear that investigations were carried out to a high ethical standard.…”