A Case report of Congenital Unilateral Upper and Lower Limb Reduction

Congenital limb reduction defect is a rare condition that is detectable in prenatal ultrasound. The purpose of this study was to report a rare case of congenital unilateral upper and lower limb reduction, which was not detected in prenatal ultrasound.

 A primiparous woman was admitted to undergo a cesarean section due to breech presentation. The results of routine blood tests and first-trimester screening were normal. Anomaly ultrasound scan indicated the possibility of midface hypoplasia; however, three-dimensional ultrasound ruled out this condition. Other ultrasound evaluations in the following weeks of pregnancy were indicative of the normal health condition of the fetus. The outcome of the cesarean section was a girl with obvious unilateral shortening of the left limbs. Other associated anomalies included saddle nose, hepatomegaly, ichthyosis, and low-set ears.

Congenital limb reduction defect can be detected at an early stage through an anomaly ultrasound scan in the second trimester of pregnancy. It is recommended to allocate sufficient time for an anomaly ultrasound scan, observe all parts of the four fetal limbs, and perform fetal examination in all three coronal, longitudinal, and axial planes.