25-year-old female patient with chronic knee pain had radiographs of the knee joints obtained.
There is chronic anterior and superior dislocation of the tibia with respect to femur, left knee joint worse than right. There is genu recurvatum.
A. Background
Larsen syndrome is associated with unusually large range of joint movement (hyper-mobility). It predominantly affects large joints, foot deformities like club foot, cervical spine dysplasia, scoliosis, short stature, craniofacial anomalies like cleft palate, hearing loss, accessory carpal bones and flat, square shaped tips of fingers (pseudo clubbing).
B. Clinical Perspective
Larsen syndrome is a rare genetic disorder. The classic form of Larsen syndrome is caused by mutations of the FL-NB gene and has autosomal dominant inheritance. The estimated incidence is 1 in 100, 000 people. [1] There is a lethal and non-lethal from. The lethal form is associated with pulmonary hypoplasia.
These patients may die of early complications secondary to dislocation of the cervical spine, tracheomalacia, heart disease, and severe respiratory infection. [4] Surgical repair has high failure rates due to abnormal connective tissue. So conservative treatment for clubfoot, knee and hip dislocations are suggested. [1, 2]
C. Imaging Perspective
Congenital connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome and Larsen syndrome, are all characterized by generalized joint hyper-mobility. [3]
Antenatal ultrasound may help in diagnosing the features of multiple congenital joint dislocations, and facial abnormalities. One can do amniocentesis and genetic testing prenatally.
D. Outcome
The definitive diagnostic confirmation of Larsen syndrome is obtained from molecular genetic testing. Termination of pregnancy can be offered thereafter before viability.
Larsen syndrome
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Based on the provided anteroposterior and lateral knee X-ray images, the following main features can be observed:
1. Bilateral knee joint abnormalities: There is a certain degree of abnormal alignment between the tibial and femoral articular surfaces, showing an irregular appearance.
2. Suspected partial joint subluxation or instability: Poor alignment of the patella or femorotibial joint surface indicates potential joint instability or a tendency toward subluxation.
3. No obvious soft tissue swelling or extensive bone destruction has been observed, but the overall structure of the joint and bone suggests a possible congenital or connective tissue anomaly.
Considering a 25-year-old female with chronic knee pain and the radiological findings, the following possibilities are proposed:
1. Larsen Syndrome:
• This syndrome is characterized by congenital joint subluxation or dislocation, joint laxity, and skeletal and facial developmental abnormalities. Repeated knee dislocation or instability is a common presentation.
• The abnormal knee structure and suspected articular malalignment in this case align with the radiological features typical of Larsen Syndrome.
2. Other connective tissue diseases (e.g., Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, etc.):
• These conditions can also present with hypermobile joints and congenital abnormalities. However, they often involve other systemic manifestations such as abnormal skin elasticity or cardiovascular involvement. Further clinical evaluation and genetic testing are needed to confirm or rule them out.
3. Skeletal developmental abnormalities or other rare congenital joint conditions:
• If there is a relevant family history or documented multiple joint dislocations since birth, a comprehensive evaluation of disease course, surgical history, and genetic factors should be considered.
Based on the patient’s long-term knee pain, radiographic evidence of structural abnormalities and possible partial subluxation, along with clinical indications of joint laxity and potential skeletal developmental issues, the most likely diagnosis is “Larsen Syndrome.”
For further confirmation, genetic testing (e.g., FLNB gene testing) and more detailed clinical evaluations, including family history, are recommended.
1. Conservative Treatment:
• Due to the higher failure rate of surgical repairs in cases with connective tissue anomalies, conservative treatment is preferred if knee function is still acceptable. This includes braces for joint stabilization, physical therapy, and pain management.
• Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to relieve chronic pain and reduce inflammatory stimulation in the joints.
2. Indications for Surgery:
• If repeated dislocation, severe functional limitations, or neurovascular compromise occur, an evaluation by an orthopedic and related specialty team is necessary to assess surgical feasibility.
• Preoperative assessment of connective tissue stability is crucial, as the surgical risk is relatively high in such cases.
3. Rehabilitation and Exercise Prescription:
• Exercise Principles (FITT-VP):
· Frequency (F): Train 3–5 times per week. Given the tendency for joint subluxation, start with 2–3 sessions per week and gradually increase.
· Intensity (I): Low to moderate intensity (e.g., walking, resistance band exercises), avoiding high-impact activities such as vigorous running or jumping.
· Time (T): 20–30 minutes per session is recommended. Training can be divided into segments based on fitness levels, gradually extending duration.
· Type (T): Gentle joint flexibility exercises, muscle strengthening (particularly the thigh muscles to protect the knees), and low-impact aerobic exercises (e.g., swimming, cycling).
· Progression (P): As joint stability and muscle strength improve, gradually increase intensity or duration, while closely monitoring knee pain and function.
· Volume (V): Adjust the total training load based on the patient’s capacity and symptoms to avoid overuse injuries.
• Specific Training Recommendations:
· Initial Phase: Chair-based straight leg raises, light resistance band exercises, and core stability training (beginner variations of the plank).
· Advanced Phase: Gradually progress to seated or standing exercises with mild resistance, emphasize proprioception training for the lower limbs (e.g., balance board), and add moderate aerobic exercise (e.g., stationary bike, swimming).
· Regular follow-up with rehabilitation therapists or specialists and adjust the plan according to joint stability and pain feedback.
Note: During rehabilitation and exercise, pay special attention to joint pain, discomfort, or early signs of dislocation. Avoid arbitrarily increasing the exercise load. Consider wearing knee braces or supports during training to reduce joint stress.
Disclaimer: This report is based on the available information and is intended for reference only. It does not replace an in-person consultation or professional medical advice. Please seek medical attention if you have any concerns.
Larsen syndrome