Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

Abstract

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1–20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.