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Musculoskeletal Medicine for Medical Students

 

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Diagnosis= Idiopathic Talipes Equinovarus

 

 

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Description

Talipes Equinovarus is the medical term for clubfoot, a condition that is usually present at birth where one or both feet are positioned down (plantar flexed) and in (inverted).It may be idiopathic or associated with a genetic disorder.

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Pathology (organ, cell, system)

Pathologic specimens from clubfeet demonstrate a few abnormalities. First, there is abnormal muscle fiber grouping—with a predominance of type 1 muscle fibers and relative dearth of type 2B fibers. The etiology of this abnormal muscle development is unclear, it may be related to aberrant innervation of the muscle fibers.

Another pathologic finding is the ligaments in club feet are more fibrotic, seemingly scarred, than in controls. One study found that

100% of ligaments from clubfeet contained vimentin, a marker of wound/scar, while only 8% of controls were positive for this marker. Again, it is unclear how/why this scarring occurs, but there can be no doubt that clubfeet are pathologically different than normal feet.

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Pathophysiology

The pathophysiology of this disease is poorly understood. It seems that, as mentioned above, there is some abnormal development of muscles/ligaments that leads to the foot being particularly stiff and inappropriately plantar flexed/inverted. Further theories on what causes this abnormal development are discussed in “Etiology”

 

Differential Diagnosis

While clubfoot is a clinical diagnosis that is usually easily made upon inspection of a newborn, it is important to differentiate this condition from metatarsus adductus (MTA). MTA is a deformity in which the hindfoot is normal, but the forefoot is adducted—pointing inward. Clubfoot can be ruled out in these children by ensuring that the hindfoot can be dorsiflexed, inverted, and everted normally.

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Epidemiology

Clubfoot is present in 1/1000 births in the United States, and shows a 2:1 male predominance. Approximately 50% of cases are bilateral. The Chinese population has the lowest incidence: 0.4/1000, and the Hawaiian population has the highest: 7/1000. It is most commonly an isolated deformity, but may be associated with other genetic conditions or abnormalities in between 24-50% of cases. Of these associated conditions, the most common are disorders of the nervous system, particularly myelomeningocele and arthrogryposis. Children with a family history of clubfoot are at increased risk—25% cases have a positive family history.

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Etiology

It is not known exactly what causes clubfoot. The popular theory until the 1980’s was that the deformity was due to compression in utero. However, studies have found that fetuses may demonstrate the clubfoot early in pregnancy, before there has been any opportunity for compression. The prevailing theory currently is that the cause is multifactorial, with many different genes playing a role. Clubfoot certainly has a genetic component—given that it’s incidence varies by population, it seems to run in families, and there is a 33% concordance rate between identical twins. Several genes have been associated with clubfoot—including apoptotic genes and HOXD2 transcription factors, but all of these show low penetrance and their interactions are not predictable. In summary, the etiology remains unknown but is likely polygenomic.

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Clinical manifestations

The main presenting feature of clubfoot is the deformity itself. The foot is plantar flexed, inverted, and often has an abnormally high arch. Depending on the severity, the foot may be passively moved into a normal position or may be very rigid. The patient almost never complains of pain, even after many years of the condition. However, their gait is affected—they walk on the dorsolateral side of the foot—developing a callus and hyperpigmentation of this area. In addition, the calf on the affected side is smaller than the normal side, even after correction.

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Late presentation, complications

If left untreated, clubfoot can progress to debilitating foot arthritis that prevents the patient from engaging in sports and, if severe enough, basic activities like walking. The untreated foot become extremely stiff and further deformed by years of the patient walking on the lateral aspect of the foot. If treated, patients with club foot may essentially be cured—they will have normal gait, no pain, minimal arthritis—and may participate fully in sports. The only residual after treatment is that the calf on the affected side remains somewhat smaller and slightly weaker. However, this should not prevent any level of activity.

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Nutritional factors

Not applicable.

 

Radiographic evidence

Radiographs of clubfeet are often obtained despite the fact that offer little utility in terms of diagnosis or management. The “Kite angle” of the foot—the angle between the long axis of the talus and calcaneus—can be measured and used to confirm the diagnosis of clubfoot. Radiographs may be helpful in terms of ruling out any other abnormality of the foot. X-rays are not useful in terms of guiding management or making decisions pre-operatively, and their appearance post-op does not correlate well with the patient’s functionality.

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Laboratory evidence

Laboratory tests are of little use in the identification or treatment of clubfoot. In idiopathic clubfoot, there should not be any abnormalities.

 

Psychosocial impact of disease

Untreated clubfoot can have serious psychosocial and quality of life impacts as children get older. The deformity causes them to have an abnormal gait that could be the source of ridicule/alienation at school. Perhaps even more difficult is the fact that the deformity would limit their participation in gym class, sports, and other activities. Further down the line, the condition may preclude them from certain physically strenuous jobs (including the military) and cause a significant source of disability due to arthritis and pain. When treated appropriately, patients with clubfoot should be able to do everything a normal kid can do. In fact, several famous athletes, including ice-skater Kristi Yamaguchi and soccer player Mia Hamm, were born with club feet. The only difficulty for kids who are treated is getting through the initial first 4 years of life when kids initially require weekly or biweekly doctor’s appointments for casting and then have to wear braces to bed every night. This is hardest perhaps not on the child, but on the parents. Relapses in clubfoot are usually due to non-compliance with bracing, likely due to the fact that this daily ritual may cause a significant source of stress for a family.

 

Risk factors

Risk factors for a baby being born with clubfoot include, as mentioned early, male sex, Hawaiian/Pacific Islander ethnicity, positive family history (OR=6.5). In addition, smoking exposure in utero has been associated with an increase in clubfoot (OR=1.34), especially for those babies that already have a positive family history (OR=20!). Therefore, mothers who have a family history of clubfoot should be strongly counseled not to smoke while pregnant!

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Prevention

So far, there has not been much attempt toward “prevention” of clubfoot, as the exact causes are not known. However, it can now be identified early in the second trimester—using fetal ultrasound—and parents can be counseled about future treatment and genetic testing for associated conditions. It is useful to begin treatment soon after birth to prevent worsening of the deformity.

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Treatment options

Treatment options for clubfoot include casting, bracing, physiotherapy, Achilles tendon tenotomy, and surgery. The standard of care in the U.S. is the Ponseti Method, which begins with serial casting-- where the affected foot is gradually restored to a normal position by biweekly manipulation and casting. Improvement should be noted within the first month of treatment. Most kids will then require Achilles tendon tenotomy to release the foot from extreme plantar flexion. This procedure may be done in the office with local anesthetic and the tendon usually grows back in a looser position. Bracing is then required after casting to prevent the deformity from recurring. Kids have to wear braces until the age of 4, a possible downside of the non-operative approach.

In Europe, intensive physiotherapy, known as the “French Method” is popular. This method involves daily manipulation of the newborn’s foot for 2 months and has been reported to achieve a success rate of 75%.

If the Ponseti Method has been deemed a failure after 3-6 months of treatment, surgery may be considered. The surgery consists of soft-tissue release that varies in technique depending on the patient. Surgery seems to be most effective if completed in the first year of life.

 

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Outcomes  of treatment

Treatment of clubfoot with the Ponsetti method of casting, bracing, tenotomy approach is extremely successful. Some studies have found that more than 95% of cases can be corrected this way. However, there is a 10% relapse rate in this group, usually due to non-compliance with bracing. About a quarter of the patients who relapsed did end-up needing to have surgery to prevent further relapse.

Failure of surgery is relatively high, reported as about 25%. This may be due to the fact that surgery is usually reserved for the most complex cases of clubfoot that have been recalcitrant to other methods of correction.

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Potential
Complications of treatment

Surgical intervention for clubfoot appears to have the most complications of any treatment, which is why it is often saved as a last resort. In addition to the usual complications of surgery—especially the risk of anesthesia in a child less than 1 year old, there are other problems. Surgical treatment has been associated with severe foot arthritis in adulthood, increased pain, stiffness, deformity, and muscle weakness. There are not many adverse effects of casting and bracing—their main downfall is that they are not always effective. In addition, recurrence of clubfoot can easily recur if the child is not compliant in wearing the braces until he or she is at least 4 years old. 

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Misc

People with uncorrected clubfoot may not be fit for military duty if they have: “ Current or history of clubfoot (754.70) or pes cavus (754.71) that prevents the proper wearing of military footwear or impairs walking, marching, running, or jumping is disqualifying.”

Department of Defense (DOD) Directive 6130.3, "Physical Standards for Appointment, Enlistment, and Induction,"

References:

1. Roye BD, Hyman J, and Roye DP. Congenital Idiopathic Talipes Equinovarus. Pediatr. Rev. 2004;25;124-130.

2. Dobbs MB, Gurnett CA. Update on Clubfoot: Etiology and Treatment. Clin Orthop Relat Res . 2009 May; 467 (5) : 1146–1153.

3. Morcuende JA , Dolan LA , Dietz FR , Ponseti IV . Radical reduction in the rate of extensive corrective surgery for clubfoot using the Ponseti method. Pediatrics . 2004 Feb;113(2):376-80.

 

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