case_images: PMC11329891_01
case_images: PMC11329891_02
case_images: Gross images of the: malformed left upper limb (a), the malformation of both lower limbs (b), and the right index and middle finger syndactyly (c).
case_images: 10.1177_2050313X241271868-fig1.jpg
case_images: PMC11329891_02_10.1177_2050313X241271868-fig1.jpg
case_images: fig1-2050313X241271868
case_images: The right upper limb was well-formed but had syndactyly of the right index and middle fingers (Figure 1). Both lower limbs were malformed: the left leg was absent, and the right leg was malformed with one digit on the right foot and two on the left (Figure 1).
case_images: A skeletal survey of the upper extremities revealed a malformed rudimentary humerus was present on the left with an absence of elbow joint, forearm, hand, and fingers. On the right, the shoulder joint, humerus, elbow joint, radius, ulnar, and carpal bones were present, but the metacarpal bones could not be observed by the image. (b). In the lower extremities, both femora were grossly shortened, with only a small, somewhat triangular portion of bone in both thighs. A single bone was present in the right leg but absent in the left. The right showed a malformed ankle. However, the spine, clavicle, and ribs are normal (a). A lateral view of the skull revealed normal bone formation without any deformities (c). Pelvic X-ray showing both-sided proximal femur tapering end with absence of head and neck, dysplastic hip, and underdeveloped acetabulum; on the right side, there is an underdevelopment of the knee joint, an ankle joint, and an absent fibula (fibular deficiency). Left side: absent knee joint, no tibia or fibula, no ankle joint (d).
case_images: 10.1177_2050313X241271868-fig2.jpg
case_images: PMC11329891_02_10.1177_2050313X241271868-fig2.jpg
case_images: fig2-2050313X241271868
case_images: After birth, a "skeletal survey"   showed short limb bones and a normal skull (Figure 2). A follow-up pelvic X-ray revealed proximal femur tapering on both sides with the absence of the head and neck, dysplastic hips, an underdeveloped acetabulum, right fibular deficiency, and absent bones below the left knee (Figure 2).