A 20-year-old male patient with no health complaints admitted to our hospital for obligatory health screening before military service. On physical examination, there was a fixed pronation of 30 degrees in the left arm, and the ability to supinate the left forearm and the hand was limited.
Anteroposterior and lateral radiographs of the left elbow showed bony fusion between the proximal aspects of the radius and ulna.
Congenital proximal radioulnar synostosis (CPRUS) is a congenital deformity of the upper extremity characterised by bony fusion of the proximal ends of the radius and ulna. This rare abnormality is the result of the deficiency in the longitudinal segmentation of the radius and ulna during the 7th week of gestation. To date, approximately 350 cases of CPRUS have been reported [1,2]. The disorder may be detected either as an isolated abnormality or in association with various other musculoskeletal, heart (cardiac), neurologic, or gastrointestinal abnormalities. The other congenital musculoskeletal disorders with which CPRUS may occur are polydactyly, syndactyly, Madelung's deformity, carpal coalition, thumb aplasia, arthrogryposis, mandibulofascial dysostosis, congenital hip dislocation and clubfeet. It may also be detected as a component of some syndromes including Poland, Crouzon, Apert's, Carpenter's, Klinefelter, William's and Holt-Oram syndromes [3,4].
CPRUS is reported to be bilateral in nearly 60% of the cases. The most common complaint among the patients is the limitation in the forearm rotation with preserved flexion and extension functions of the elbow joint. The diagnosis is based on the depiction of the bony fusion of the proximal ends of radius and ulna on direct radiograms (Figures 1 and 2), and a detailed imaging may be performed by computerised tomography [2]. Cleary and Omer described four different radiographic patterns of CPRUS, depending on the presence of synostosis and the location of the radial head: type 1, no bony involvement and the radial head is in normal location; type 2, synostosis with normal radial head location; type 3, synostosis with posteriorly dislocated hypoplasic radial head; and type 4, synostosis with anteriorly dislocated radial head [5].
In the cases with mild deformity, the patients usually compensates with the adjusted functions of the shoulder and wrist joints. In order to avoid overloading these joints, occupational therapy and modification of the activities are recommended [2,6]. In most of these patients, functional adaptation has been reported to reach a good level [7]. However, in the cases with severe disability, surgical correction of synostosis by proximal derotational osteotomy is indicated [5-7]. But unfortunately, success rates of surgery in regaining the rotatory function is reported to be low [2,6].
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Congenital proximal radioulnar synostosis
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The patient is a 20-year-old male with no significant health complaints. He was found to have his left forearm fixed at approximately 30° of pronation with limited supination during a routine physical examination before enlisting. Based on the provided X-ray images (Figure 1 and Figure 2):
Overall observation shows signs of fusion between the proximal radius and ulna, consistent with common imaging findings of congenital proximal radioulnar joint abnormalities.
Combining clinical symptoms with the imaging findings, possible diagnoses or differential diagnoses include:
Considering the patient’s age, absence of trauma history, imaging findings, and clinical presentation of the left forearm fixed in pronation with impaired supination, the most likely diagnosis is:
Congenital Proximal Radioulnar Synostosis (CPRUS)
-> If further clarification of the bony structure details is required, CT scans or other three-dimensional reconstruction imaging can be considered to evaluate the bony trabeculae and the exact position of the radial head.
Based on the characteristics of this condition and the patient's daily functional status, management can include conservative and surgical approaches:
Rehabilitation training should be individualized and gradual (following the FITT-VP principle). Recommendations include:
In addition, regular follow-up visits are recommended. Consultation with a rehabilitation therapist or orthopedic surgeon is advised to assess joint range of motion, muscle strength, and pain control, in order to adjust the rehabilitation plan as needed.
This report is based on limited imaging and clinical information and serves as a reference analysis. It cannot replace an in-person consultation or professional medical advice. Specific diagnoses and treatment plans should be developed according to the patient’s actual condition and guided by specialist physicians.
Congenital proximal radioulnar synostosis