Fetal Amelia With Hypoplastic Tibia and Terminal Fibular Hemimelia: A Case Report With Review of the Literature

Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb's skeletal elements, whereas hypomelia is defined by the incomplete development of a limb's skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.