Introduction
Clinica Imagenologica Dres. Parada, Montevideo, Uruguay. Definition⁚ Unilateral or bilateral short lower extremity due to a congenital absence of fibula, commonly associated with anterior bowing of the lower leg, with skin dimpling and anomalies of the foot.. Synonyms⁚ Femur-fibula-ulna syndrome 1, intercalary hemimelia of the fibula, Fibula, congenital deficiency of proximal femoral ...
Definition of Disease⁚ Ulna and Fibula Absence with Severe Limb Deficit
Clinica Imagenologica Dres. Parada, Montevideo, Uruguay. The condition is defined as a unilateral or bilateral short lower extremity caused by the congenital absence of the fibula. It is often linked with anterior bowing of the lower leg, skin dimpling, and foot anomalies. Also known as Femur-fibula-ulna syndrome, this rare anomaly involves limb defects in the femur, fibula, and ulna, affecting limb functionality. This anomaly can vary in severity and may present with additional limb abnormalities.
Clinical Features
Characteristics of Femur-Fibula-Ulna (FFU) Syndrome include variable limb defects involving femur, fibula, and ulna. Symptoms may vary in severity and may be associated with additional limb abnormalities.
Characteristics of Femur-Fibula-Ulna (FFU) Syndrome
Femur-Fibula-Ulna (FFU) syndrome is a rare congenital anomaly characterized by limb defects, commonly involving the femur, fibula, and ulna. The syndrome may present unilaterally or bilaterally, with variable severity and potential additional limb abnormalities. Diagnostic imaging plays a crucial role in confirming the specific bone deficiencies associated with this condition. Understanding the distinct characteristics of FFU syndrome aids in accurate diagnosis and appropriate treatment planning.
Diagnosis
Importance of Radiographs in confirming defects related to Ulna and Fibula absence with severe limb deficit. Radiological imaging aids in identifying and characterizing specific bone deficiencies.
Characteristics of Femur-Fibula-Ulna (FFU) Syndrome
Femur-Fibula-Ulna (FFU) syndrome is a rare congenital anomaly characterized by limb defects, commonly involving the femur, fibula, and ulna. The syndrome may present unilaterally or bilaterally, with variable severity and potential additional limb abnormalities. Diagnostic imaging plays a crucial role in confirming the specific bone deficiencies associated with this condition. Understanding the distinct characteristics of FFU syndrome aids in accurate diagnosis and appropriate treatment planning.
Genetic Testing
Clinical molecular genetics test for ulna and fibula absence with severe limb deficiency. Using sequencing analysis to identify specific genetic mutations associated with the condition.
Clinical Molecular Genetics Test for Ulna and Fibula Absence
Clinical molecular genetics testing for ulna and fibula absence with severe limb deficiency involves a specialized analysis to identify specific genetic mutations associated with the condition. This diagnostic method uses sequencing analysis of the entire coding region to pinpoint genetic variations linked to the absence of ulna and fibula in severe limb deficits. By offering insights into the genetic underpinnings of this rare anomaly, clinicians can better understand the condition and tailor treatment plans accordingly.
Anatomy
The fibula, located on the lateral side of the lower extremity, is thinner and shorter than the tibia. It runs alongside the tibia from the knee joint to the ankle joint, contributing to leg stability.
Role of the Fibula in Lower Extremities
The fibula, a long bone on the lateral side of the lower extremity, plays a crucial role in leg stability. It runs alongside the tibia from the knee joint to the ankle joint, contributing to overall lower limb structure and function.
Pathology
Comparison of the ulna and radius in the forearm reveals distinctive differences in structure and function, highlighting the unique characteristics of each bone in the upper limb.
When comparing the ulna and radius in the forearm, distinct differences in structure and function become apparent. The ulna, one of the two long bones in the forearm, spans from the elbow to the wrist on the medial side. In contrast, the radius is the lateral bone of the forearm and plays a crucial role in articulating with the humerus and ulna, contributing to overall forearm strength and movement.
Treatment
Orthopedic care is crucial for individuals with mesomelic dwarfism variation associated with ulna and fibula absence. A comprehensive approach aims to address limb abnormalities and enhance functionality.
Comparison of Ulna and Radius in Forearm
When examining the forearm bones, the ulna and radius display unique characteristics. The ulna, located on the inner side, extends from the elbow to the wrist, while the radius on the outer side articulates with the humerus and ulna, contributing to forearm strength and motion.
Prognosis
The impact of limb reduction defects on functionality varies based on the severity of ulna and fibula absence, affecting overall limb functionality and individual quality of life.
Impact of Limb Reduction Defects on Functionality
Limb reduction defects, particularly in cases of ulna and fibula absence, can significantly impact an individual’s functionality. The severity of the limb deficit directly influences the person’s ability to perform everyday tasks and engage in physical activities. Understanding the functional implications of these defects is essential in developing personalized treatment plans to improve the individual’s quality of life.
Research and Studies
Investigation sheds light on ulna and fibula absence with severe limb deficiency, advancing our understanding of this rare condition and guiding potential treatment options.
Investigation of Ulna and Fibula Absence with Severe Limb Deficiency
A recent study by Woods et al. (2006) focused on a family with children affected by the absence of ulna and fibula, leading to severe limb deficiency; The research delved into clinical manifestations, including ectrodactyly and contractures, shedding light on the impact and management of severe limb deficits associated with ulna and fibula absence.