Radiographic findings of a patient with right upper extremity abnormalities was presented.
The patient had right-sided phocomelia with monodactyl. He has no remarkable prenatal history and physical examination was within normal limits, with the exception of the right upper extremity. Radiographs showed that humerus synostosed with deformed radius, ulna was absent and there was only one carpal bone, one metacarpal bone and one biphalangeal digit. There was an abnormal distal medial bony projection from the humerus, which was probably an elongated medial epycondyle. Morphologic and radiographic features of the finger are similar to first finger.
Several classifications about congenital anomalies of the upper limb have been described. Humeroradial bifurcation due to fusion of humerus and radius and oligodactyly is very rare congenital abnormalities and frequently associated with aplasia or hypoplasia of the ulna. It has been described as Type III ulnar aplasia by Swanson et al. They have been classified into four type of ulnar ray deficiencies based on the fingers: type I, hypoplasia or partial defect of the ulna; type II, total defect of the ulna; type III, total or partial defect of the ulna with humeroradial synostosis; type IV, ulnar defect with congenital amputation at the wrist. In the presented case, the upper limb defect was not associated with any other anomaly. It is similar to phocomelia type 3 (forearm deficient) but in phocomelia, hand structure is present. But it may occur as part of SC phocomelia syndrome. Humeroradial synostosis is most often unilateral, but some bilateral cases also have been reported. It can be alone or associated with other congenital anomalies. There are some reports about concomitant factors such as maternal smoking, exposure to alcohol, drug abuse and other drugs, poor maternal nutrition and fetal hypoxia.
HUMERORADIAL SYNOSTOSIS WITH ULNAR APLASIA
Based on the provided X-ray images:
1. The proximal humerus and radius on the right side appear fused, with no clearly discernible joint space between the radius and humerus, suggesting humeroradial synostosis.
2. The ulna is markedly absent or only shows residual traces, exhibiting classic features of “ulnar aplasia” or “ulnar deficiency.”
3. There is partial absence of structures in the distal forearm and wrist region, or presence of underdeveloped hand structures (possibly oligodactyly).
4. No obvious fracture lines or signs of acute bone destruction are observed; no significant swelling or other abnormal densities are noted in the surrounding soft tissues.
Combining the patient’s clinical presentation (congenital right upper limb deformity) with the above imaging findings, the following diagnoses or differentials are primarily considered:
1. Ulnar ray deficiency (Swanson classification): According to Swanson’s classification for ulnar longitudinal deficiency (ulnar aplasia or ulnar ray deficiency), Type III is characterized by complete or partial absence of the ulna and may be accompanied by humeroradial synostosis, consistent with the deformity in this case.
2. Phocomelia: Affected limbs in this condition can present with absence or severe shortening of the proximal segment. However, in this case, some degree of intact humerus and distal radius is still visible, and the hand is not entirely absent. Although it shows some similarity to Type III forearm deficiency, its features align more with ulnar ray deficiency.
3. SC Phocomelia Syndrome: Some congenital syndromes can present with similar limb developmental anomalies, but currently there is no evidence pointing to other systemic abnormalities. Further clinical data would be required to rule this out.
Taking into account the onset characteristics, imaging findings, and Swanson’s classification criteria, the most likely diagnosis is: Swanson Type III Ulnar Deficiency (ulnar aplasia with humeroradial synostosis).
1. Treatment Overview:
• Conservative Management: If the remaining limb function is adequate and the patient can meet daily needs through training and assistive devices, conservative measures may be considered first. These may include wearing orthotic braces and undergoing physical therapy.
• Surgical Consideration: For patients with significant limitations of elbow joint mobility affecting daily activities, or with other deformities needing reconstruction, surgical options may be considered, such as osteotomy for realignment, joint reconstruction, or soft tissue release procedures. Specific decisions depend on the patient’s functional requirements and skeletal maturity.
2. Rehabilitation and Exercise Prescription: Following the FITT-VP principle (Frequency, Intensity, Time, Type, Volume/Progression), an individualized exercise and rehabilitation program can be formulated:
• Training Frequency: Begin with 2–3 sessions per week, gradually increasing to 3–5 sessions per week based on patient tolerance and functional level.
• Training Intensity: Exercise should not cause significant pain. Start with light to moderate resistance and supportive exercises, such as finger grip training and forearm and shoulder muscle strengthening.
• Training Duration: Initially aim for about 10–15 minutes per session, with multiple repetitions after rest. Gradually increase to 20–30 minutes per session as tolerance improves.
• Training Methods: Focus on range of motion (ROM) exercises, manual resistance exercises, coordination and flexibility training, and sensory stimulation, for example:
– Range of Motion: Passive and active exercises within the safe range to maintain and improve mobility of the elbow, shoulder, and wrist;
– Muscle Strengthening: Use low-load methods such as elastic bands or water therapy to enhance upper limb muscle strength;
– Functional Training: Simulate daily activities; provide guidance on proper posture and use of assistive devices during dressing, eating, writing, etc.
• Progression of Exercise: Increase training resistance, complexity of movements, or frequency based on functional improvements; closely monitor fitness and pain levels, and adjust accordingly if issues arise.
• Precautions:
– Avoid excessive loading and forced joint hyperextension to prevent muscle fatigue or joint injury;
– Schedule regular follow-up for functional and skeletal development assessments, and modify rehabilitation goals and plans as needed;
– If the patient has comorbid medical conditions or compromised cardiopulmonary function, implement exercise gradually under the supervision of a physician or rehabilitation therapist.
Disclaimer: This report serves only as a reference analysis based on the current imaging and case history. It cannot replace an in-person consultation or the opinion of a professional physician. Specific treatment plans should be finalized after practical evaluations and multidisciplinary discussions.
HUMERORADIAL SYNOSTOSIS WITH ULNAR APLASIA
