Impact of congenital talipes equinovarus etiology on treatment outcomes

Abstract

Although congenital talipes equinovarus (CTEV) is often idiopathic, additional birth defects occur in some patients that may have an impact on the treatment of this disorder. The purpose of this study was to determine the prevalence of associated malformations, chromosomal abnormalities, or known genetic syndromes, and to compare treatment outcomes of children with idiopathic CTEV with children with non-idiopathic CTEV. Of 357 children evaluated, 273 (76%) had idiopathic CTEV (179 males, 94 females; mean age 2y 1mo [SD 1y 2mo], range 0-18y) and 84 (24%) had non-idiopathic CETV (51 males, 33 females; mean age 2y 5mo [SD 2y], range 0-16y). Disorders affecting the nervous system were found in 46 (54%) children with non-idiopathic CTEV. In a subgroup of patients treated entirely at our institution (n=196), children with non-idiopathic CTEV (n=47) required more casts for correction than those with idiopathic CTEV (n=149; 5.3 vs 4.6; p=0.016). There was also a greater risk of recurrence in non-idiopathic CTEV (14.9% vs 4%; p=0.009), but no significant difference in the need for extensive surgery (2.7% vs 8.5%; p=0.096). Treatment was initiated at a mean age of 13 weeks (range 1wk to 2y 6mo) for both idiopathic and non-idiopathic patients, and treatment was assessed during a minimum 2-year follow-up. Non-idiopathic CTEV can be successfully treated with the Ponseti method of serial casting, with low recurrence rates or need for surgery.Congenital talipes equinovarus (CTEV), also referred to as clubfoot, occurs in 1 in 1000 live births 1 and is one of the most common birth defects involving the musculoskeletal system. It is recognizable at birth and is readily distinguishable from positional foot anomalies because the foot is rigid and does not correct with passive movement. In contrast to metatarsus adductus and calcaneovalgus foot anomalies, both positional in nature, there is less evidence to suggest that CTEV results from intrauterine crowding or positional effects.1 When untreated, children with CTEV walk on the sides of their feet instead of the soles, resulting in infections, callus formation, arthritis, and significant limitations in mobility and employment opportunities.2 Successful treatment entails months of serial manipulations, castings, and surgical procedures, followed by bracing for several years. Most cases of CTEV occur as an isolated birth defect and are considered idiopathic. A genetic component is suggested by the 33% concordance of identical twins 3 and familial occurrence in 25% of cases, 4 but the causes are currently unknown. The pathophysiological basis of idiopathic CTEV may be better understood by studying the known causes of this birth defect.One purpose of this study was to determine the current prevalence of additional malformations, chromosomal abnormalities, or known genetic syndromes in a hospitalbased orthopedic clinic CTEV population. CTEV is a common component of several neurological disorders, including distal arthrogryposis, myotonic dystrophy, and myelomeningocele. Chromosomal abno...

Update on Clubfoot: Etiology and Treatment

“…Although the Ponseti method has traditionally been applied only to individuals with idiopathic clubfoot, the Ponseti method is now being used successfully for the treatment of severe nonidiopathic clubfoot deformities such as clubfoot occurring with arthrogryposis [8], myelomeningocele [12], a host of different genetic syndromes [30], as well as neuromuscular disorders [8,30]. The method is also being applied to the treatment of complex clubfeet recently defined by Ponseti [55] and for clubfeet that have been previously treated with extensive soft tissue release surgery but have suffered a relapse [26].…”

“…One example is the development of a dynamic bar that allows independent movement of each leg rather than a solid bar. The dynamic bar has the potential to improve patient comfort thus resulting in improved bracing tolerance [8,12,30]. The rotation of the shoes on the bar is set at around 70°of external rotation for the clubfeet and around 40°of external rotation for the normal feet.…”

“…The prevalence of additional congenital anomalies or chromosomal abnormalities in patients with clubfoot varies substantially across studies, depending on the population and ranges from 24% to 50% [3,30]. Of the known etiologies for clubfoot, disorders specifically involving the nervous system comprise the greatest number.…”

“…Many theories have been proposed to explain the etiology of idiopathic clubfoot including vascular deficiencies [34], environmental factors, in utero positioning [23], abnormal muscle insertions [9], and genetic factors [28,30]. While it is becoming more clear that clubfoot is multifactorial in origin, genetic factors clearly play a role as suggested by the 33% concordance of identical twins and the fact that nearly 25% of all cases are familial [44].…”

“…There is increasing evidence that clubfoot severity and treatment outcomes may vary by etiology [8,30]. Thus, identification of the exact etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in an individual patient.…”