Proximal femoral focal deficiency is a developmental dysplastic congenital abnormality that primarily affects the proximal two-thirds of the femur, resulting in limb shortening and length discrepancies. The diagnosis is made by identifying a shortened femur with a proximal femoral deficiency. If left untreated, it can cause stunted growth, abnormal gait, spinal abnormalities, cosmetic concerns, behavioral changes, and psychological and emotional stress. We present two cases of women who sought routine antenatal care at our hospitals at 18 and 21 weeks of gestation. Both were diagnosed with isolated proximal femoral focal deficiency and chose to terminate the pregnancy, as the preferred management option, limb-lengthening, is not available in Ethiopia, and they did not want to pursue amputation and prosthetic therapy.

Hypercalcemia is a rare metabolic disorder in children, with a wide range of potential etiologies, some of which can be life-threatening. We report the case of a 2.5-year-old male child admitted for progressive lower limb muscle weakness that began one month prior to admission, associated with abdominal pain and vomiting. Initial investigations revealed severe hypercalcemia at 21.2 mg/dL (5.28 mmol/L), accompanied by hypercalciuria, hypophosphatemia, and vitamin D deficiency. The patient was transferred to pediatric intensive care due to the onset of malignant hypercalcemia, altered consciousness, and ECG-documented arrhythmia. Treatment included aggressive intravenous hydration and administration of bisphosphonates, which partially corrected the calcium imbalance. An extensive etiological workup was conducted and revealed no endocrine, renal, or infectious abnormalities. A complete blood count showed microcytic hypochromic anemia without additional hematological anomalies, and the initial bone marrow aspirate was normal. Radiography of the forearm revealed demineralization of the distal metaphyses, while imaging of the tibia identified metaphyseal osteolytic lesions in the distal femur, proximal tibia, and fibula, with localized cortical lysis. Although the initial bone marrow aspirate was normal, the combination of osteolytic lesions and progressive skeletal demineralization was highly atypical for benign conditions and increasingly suggestive of an underlying malignant process. These imaging findings prompted repeat bone marrow evaluation, which ultimately confirmed B-cell acute lymphoblastic leukemia. Pancytopenia developed after the third bone marrow examination, which had confirmed the diagnosis, reflecting a rapid shift from the initially normal hematologic status. Chemotherapy was initiated promptly, and the patient responded favorably, with complete remission documented on follow-up marrow evaluation. This case underscores that hypercalcemia, whether isolated or accompanied by osteolytic lesions, may constitute the sole initial clinical manifestation of acute lymphoblastic leukemia (ALL) in children. The absence of circulating blasts, together with a completely normal initial bone marrow aspirate, demonstrates how ALL can present deceptively in its early stages. Recognizing that early marrow evaluations may be falsely reassuring is crucial in persistent or atypical presentations, highlighting the importance of repeating bone marrow assessment when clinical or imaging findings raise concern.

Proximal focal femoral deficiency (PFFD) is a rare congenital anomaly resulting in distinct degrees of femoral hypoplasia and limb shortening. .We present a case of 20-month-old female child, presented with a history of right lower limb shortening from birth and a progressive deformity over time. Physical examination revealed a shortened, externally rotated, and flexed right lower limb. The right and left lower limbs measured 27 cm and 40 cm, respectively. A diagnosis of PFFD was established. Due to limited resources and a shortage of specialized orthopedics doctors 2QA, the patient was referred to a medical mission organization that could help in such cases. Though PFFD is a rare limb anomaly, it significantly impacts a patient's life, if left untreated. Timely diagnosis and early intervention in these cases would have significantly improved prognosis and health outcomes.

A 14-month-old female child was brought to us by her parents with the complaint of progressive shortening of her right lower limb since birth. Born to non-consanguineous parents from a poor socioeconomic background, her birth and antenatal history were uneventful. Physical examination revealed no facial dysmorphism; however, her right thigh was short and bulky, and there were restrictions in hip, knee, and ankle movements. The pediatric evaluation showed normal growth and development. X-rays confirmed proximal femoral focal deficiency (PFFD) of the right lower limb. After extensive parental counseling regarding the condition, potential interventions, and outcomes, the parents opted for prosthetic management due to concerns about surgical costs, risks, and cosmetic outcomes. A custom-made extension prosthesis was prepared for the limb and was fit. At a follow-up of one year, the child exhibited a normal gait pattern with stable hip, knee, and ankle motion, and the parents expressed satisfaction with the prosthetic management, preferring it over surgical intervention for the time being.

Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are in young children and in the current literature, there is a paucity of radiographic images of PFFD in mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult patient and to increase awareness among radiologists about this disease.