Prenatal evaluation of the fetus with limb deficiency/hypoplasia – A case report and review of common congenital limb anomalies

摘要

Congenital limb deficiencies/hypoplasias are a heterogeneous group of anomalies that range from mild abnormalities of little long-term clinical significance to the severe limb-reduction defects spectrum associated with fetal thalidomide exposure. This article reviews the approach to the prenatal evaluation of congenital limb deficiency/hypoplasia and provides an overview of selected limb reduction defects along with a discussion of etiology and genetic aspects. A case report detailing the prenatal evaluation of a fetus with a skeletal dysplasia illustrates the importance of a comprehensive, multidisciplinary and dysmorphology-based approach.