Original article 505

Clubfoot associated with preaxial polydactyly Oliver Eberhardta, Francisco F. Fernandeza, Heinz Gabrielb, Thomas Wirtha, Susanne Fuchs-Winkelmannc and Christian D. Peterleinc We report on three children with bilateral, congenital clubfoot. Four of the six clubfeet were associated with preaxial polydactyly. Five of the six clubfeet were treated without extensive surgery. A plantigrade foot was achieved, even in the three clubfeet with polydactyly, using serial casting and percutaneous Achilles tenotomy. Casting was adapted according to the existing polydactyly. One case with tibial hemimelia and a complex clubfoot deformity with preaxial tarsal polydactyly required more comprehensive surgery. A foot with good weight-bearing function was also achieved in this case following resection of the accessory medial ray, including resection of the accessory tarsal bones and posterior release. Remaining limitations in

Introduction Congenital clubfoot is one of the most common deformities of the lower extremity. This deformity is most commonly idiopathic. In some cases, clubfoot is associated with syndromes and neuromuscular disorders. Additional boney anomalies, such as coalition, can complicate treatment. Clubfoot with polydactyly is very rare, and treatment is difficult and complex. Polydactyly can occur as a preaxial, central, or postaxial duplication. As with idiopathic clubfoot, correction should occur early in life. In addition, polydactyly must be corrected; depending on the degree of severity, possibilities include a one-stage or a two-stage approach. Comprehensive operative corrections are usually necessary as well. Over 15 years ago, the Ponseti method became the most commonly implemented method used to treat clubfoot [1–5]. Numerous studies have shown the effectiveness of the Ponseti method [1–7]. With its increasing prevalence, the method has also been used to treat nonidiopathic clubfeet [6,7]. However, there are currently no published studies that examine the use of conservative treatment on clubfeet with polydactyly. In this paper, we report on treating clubfoot with preaxial polydactyly using serial casting.

Materials and methods Three children with bilateral clubfeet associated with polydactyly presented for treatment. Four of the clubfeet, in two boys and one girl, exhibited preaxial polydactyly. Two children were examined directly after birth, and one child at the age of 10 months. For five of the feet, treatment began with serial casting. The two clubfeet without polydactyly were treated following the standard Ponseti 1060-152X © 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

mobility were ascribed to hindfoot pathologies. J Pediatr Orthop B 23:505–511 © 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins. Journal of Pediatric Orthopaedics B 2014, 23:505–511 Keywords: clubfoot, foot deformity, polydactyly, Ponseti method, preaxial foot deformity a Orthopaedic Department, Olgahospital, Stuttgart, bInstitute for Clinical Genetic Klinikum Stuttgart, Stuttgart, Germany and cDepartment of Orthopaedics and Rheumatology, University Hospital Gieβen and Marburg, Marburg, Germany

Correspondence to Oliver Eberhardt, MD, Olgahospital Stuttgart, Bismarckstrasse 8, 70176 Stuttgart, Germany Tel: + 49 7 112 787 3210; fax: + 49 7 112 787 3229; e-mail: [email protected]

protocol. Serial casting for the three feet exhibiting polydactyly was adapted according to the existing deformity. All patients were documented prospectively. Clubfoot severity was classified according to the Pirani score, and polydactyly was classified according to the classification by Watanabe et al. [8,9]. To evaluate the functional results, hindfoot position and mobility were recorded.

Results Among three children with six clubfeet, three clubfeet with polydactyly and one idiopathic clubfoot were corrected using serial casting and Achilles tenotomy. One idiopathic clubfoot was corrected by Ponseti casting and posterior release. Resection of the accessory digits was carried out according to the individual deformity, with appropriate soft-tissue balancing. One foot with tibial hemimelia and accessory tarsal bones required more extensive surgery. The mean follow-up duration was 28.6 months (10–60 months). The cases are described in detail below. Details of demographic data, classification, and surgical treatment are summarized in Table 1. Case 1

Case 1 is a boy with a bilateral clubfoot; he presented with an idiopathic clubfoot on the left, a clubfoot with tarsal type preaxial polydactyly with a block metatarsal on the right, and a Pirani score of 6 (right) and 5.5 (left). Serial casting using the Ponseti method was performed directly after birth. While applying the cast, the accessory digit was incorporated into the cast. Correction of the left foot required five casts, whereas the (right) clubfoot with polydactyly required nine casts. Percutaneous Achilles tenotomy was carried out at the age of 9 weeks. Resection of the accessory digit was performed in a secondary DOI: 10.1097/BPB.0000000000000084

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30 10 10 10

30 10


− Open reduction TN joint + + PR PR + + Tarsal type M 3


− −

5 NC

13 months

+ 5.5 Tarsal type + L

Tarsal type F 2

DF, dorsiflexion; F, female; L, left; M, male; NC, not classifiable; PF, plantarflexion; PR, posterior release; R, right; TN joint, talonavicular joint.

Tibial hemimelia


+ −

− + + +

Yes PITX1 positive Tarsal coalition Tarsal coalition 4 months

+ + 9 months

6 5.5 5.5 Tarsal type

+ − + R L R M 1

Patient No. Sex Laterality


40 40 30 20 20 10 60

− − − + − + + + + + + + No +

Two-stage procedure Singlestage procedure Age at polydactyly excision Pirani score Watanabe classification of polydactyly Preaxial polydactyly

Details of demographics, classification, and surgical treatment Table 1

procedure at the age of 9 months. A foot abduction brace was used for correction maintenance. At the follow-up examination at the of age 5 years, the child presented with plantigrade feet, the heel in a neutral position, and 20° dorsiflexion and 40° plantarflexion (Fig. 1a–d). Case 2

Associated anomalies

Genetic analysis


Achilles tenotomy

First ray excision

Additional surgery

Follow-up period (months)



Journal of Pediatric Orthopaedics B 2014, Vol 23 No 6

Ankle joint range of motion at latest followup (deg.)


Case 2 is a girl with a bilateral clubfoot and a bilateral preaxial tarsal type polydactyly; she presented with duplication of the accessory metatarsal on the right foot and a Pirani score of 5.5 for both feet. Treatment with serial casting began at the age of 4 weeks after birth with a Ponseti manipulation. An MRI showed talocacaneal coalition on both feet. Casting was modified with manipulation of the heel varus by grasping the hindfoot (calcaneus and talus) and abducting the forefoot to correct the deformity in the talonavicular and the calacaneocuboid joints. Nine casts were required for correction before Achilles tenotomy could be performed. The accessory digits were not incorporated into the cast. The casts were applied with a window (Fig. 2b). Complete correction of the clubfeet was achieved. Achilles tendon tenotomy and resection of the accessory digits using medial access were performed as a single-stage procedure at the age of 4 months. Postoperative treatment was modified; instead of using a foot abduction brace, an ankle–foot orthosis was worn day and night for 6 months. At the age of 1 year, the child presented with full-weight-bearing plantigrade feet, the heel in a neutral position, and 10° dorsal extension and 30° plantarflexion. Sequence analysis of the coding exons of the PITX1 gene (NM_002653.4) was carried out and revealed a heterozygous duplication of 26 base pairs (c.72_97dup26,pLeu33ProfsX81). This duplication results in a frameshift mutation and can be considered as a causative PITX1 mutation (Fig. 2a–e). Case 3

Case 3 is a boy witha bilateral clubfoot deformity; he presented with an idiopathic clubfoot on the right, tibial hemimelia type Weber 1 with a complex clubfoot deformity, and tarsal type preaxial polydactyly on the left side. The child presented at the age of 11 months after beginning serial casting and manipulation at a different clinic. Stress radiographs before surgery showed an instability at the Lisfranc joint on the left side. MRI showed a complex hindfoot deformity with synostosis of the accessory digit and the talus and a missing medial malleolus. Surgery was performed at the age of 13 months, which included Achilles tendon lengthening and posterior release on the right foot, and resection of the accessory digit, reduction of the talonavicular joint, and posterior release on the left foot. In addition, the soft-tissue appendage (Fig. 3a) on the sole of the left foot was resected. Intraoperative situs confirmed the MRI findings together with a flat-top talus and flat articular surface of the distal tibia. Postoperatively, the child wore an ankle–foot orthosis on the left side. At the age of 2 years, the child presented with the ability to bear

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Clubfoot associated with preaxial polydactyly Eberhardt et al. 507

Fig. 1

(a) Clubfoot with preaxial polydactyly, tarsal type with a block metatarsal. (b) Preoperative radiograph. (c) Postoperative radiograph. (d) Clinical result at the 5-year follow-up.

full weight without orthoses, and showed ankle range of motion of 10° dorsiflexion and 10° plantarflexion on the complex left side and 10° dorsiflexion and 30° plantarflexion on the idiopathic clubfoot side. The hindfoot was in a neutral position on both sides. The radiographs at the latest follow-up showed a residual rocker-bottom deformity on the complex side. At the latest follow-up, the parents refused to undergo genetic analysis and provide consent for a second surgical correction because the child was able to walk with normal shoes (Fig. 3a–d).

Discussion With an incidence of 1.7 in every 1000 births, polydactyly of the foot is one of the most common deformities of the lower extremities [10]. Polydactyly is generally classified

into preaxial, central, and postaxial forms [11]. Depending on the extent in the region of the foot, the individual polydactyly can be categorized according to the classifications of Blauth and Olason or Watanabe et al. [8,12]. Belthur and colleagues modified the Watanabe classification for preaxial polydactyly to differentiate between a tarsal type, a metatarsal type, a phalangeal type, and a mirror type. In their large series, the metatarsal type was often associated with hallux varus [10]. Resection of the affected digit(s) and alignment of the remaining digits to create a fully weight-bearing, functional foot are the goals of treatment. As with polydactyly, congenital clubfoot is one of the most common deformities of the lower extremities.

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Journal of Pediatric Orthopaedics B 2014, Vol 23 No 6

Fig. 2

(a) Clubfoot with preaxial polydactyly, tarsal type with duplication of the accessory metatarsal. (b) Application of a modified cast. (c) Clinical result before Achilles tenotomy. (d, e) Clinical result at walking age.

It occurs most commonly as an isolated deformity, as socalled idiopathic clubfoot. In some cases, clubfoot is associated with syndromes and neuromuscular diseases. The Ponseti method is the preferred method for treating idiopathic and nonidiopathic clubfoot. Clubfeet with hemimelia have also been treated using serial casting [13–15]. The combination of clubfoot and polydactyly is quite rare. There are very few papers that describe the combined occurrence of polydactyly and clubfoot. An association with hemimelia must be considered [14–16]. Duplication can involve the medial, central, or lateral rays. Thompson and Albaza [16] showed a bilateral clubfoot with postaxial polydactyly. This deformity can be easily corrected by casting and resection of the accessory lateral ray after correction of the clubfoot. More complex cases are clubfeet with preaxial polydactyly. Klopocki et al. [17] reported a case of bilateral tibia hemimelia with clubfoot and preaxial polydactyly (left: hexapodocatyly with hallux varus; right: heptapodocatyly), and a case of clubfoot with mirror foot deformity.

Gurnett et al. [18] describe a case with bilateral clubfoot and duplication of the big toe. Both Klopocki et al. [17] and Gurnett et al. [18] describe the association between clubfeet with polydactyly and homeobox PITX1 gene mutations. These gene mutations cause a wide spectrum of limb malformations including clubfoot, limb deficiencies, and mirror foot deformity. Another point mutation at the sonic hedgehog regulatory region (ZRS) could produce similar foot deformities, with preaxial polydactyly as one part of the Werner mesomelic syndrome [19]. This extremely rare disorder is a combination of preaxial polydactyly of the foot with tibial hemimelia and triphalangeal thumbs [19]. The disorder is bilateral. The combination of clubfoot with preaxial polydactyly in patients with Werner mesomelic syndrome is quite rare. Hesselschwerdt and Heissel reported on a 21-year-old woman treated since birth with numerous surgical procedures. The clubfoot deformity with preaxial polydactyly was corrected at the age of 8 months by extensive soft-tissue release and resection of the accessory digit [20]. An autosomal

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Clubfoot associated with preaxial polydactyly Eberhardt et al. 509

Fig. 3

(a, b) Clinical and radiological appearance of a tibial hemimelia Weber type 1 with a clubfoot with tarsal type preaxial polydactyly. (c) Stress radiograph at the age of 11 months showing instability in the Lisfranc joint. (d) Radiograph at the latest follow-up showing residual rocker-bottom deformity.

dominant inheritance was reported. In our series, family history was positive only in case 2 and there was no involvement of the upper extremities. In one case we were able to carry out genetic analysis. Case 2 with a bilateral clubfoot with preaxial polydactyly showed a PITX1 mutation. Sequence analysis of the coding exons of the PITX1 gene (NM_002653.4) was carried out and revealed a heterozygous duplication of 26 bp (c.72_97dup26,pLeu33ProfsX81). In two cases the parents refused genetic analysis. Neither study provides information on treating clubfoot with polydactyly using manipulation and casting. Correcting the clubfoot with extensive surgery in terms of posteromedial release and resection of the accessory digit represents one treatment option. To our knowledge, this is the first study reporting on the correction of clubfeet with polydactyly using manipulation and serial casting. In our study, four of six clubfeet also had preaxial polydactyly. All cases were of tarsal types, one of which also had a duplicated metatarsal. One case had a block metatarsal. Three cases presented with additional

hindfoot deformities. There were two talocalcaneal coalitions and one case in which the clubfoot with preaxial polydactyly was associated with tibial hemimelia with accessory tarsal bones, a flat-top talus, and a missing medial malleolus. In three of the four cases of clubfoot with polydactyly, proper serial casting was able to correct the clubfoot deformity. In one case (Case 1), the complete correction was performed using the classic Ponseti method. Serial casting was modified for two feet (Case 2). The cases with talocalcaneal coalition did not undergo classic Ponseti serial casting, as the calcaneo-pedis block cannot be rotated under the talus. Nevertheless, direct manipulation of the hindfoot and abduction in the forefoot was able to correct the deformity (Fig. 2d and e). In these cases, the equinus deformity was also corrected sufficiently by percutaneous Achilles tenotomy. Cases with tibial hemimelia, clubfoot, and preaxial polydactyly are more complex. They could be associated with severe hindfoot pathologies including tarsal coalitions, talus abnormalities, and tibial hypoplasia. Correction of the clubfoot by kinematic coupling of the Ponseti method is not possible in patients with severe

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510 Journal of Pediatric Orthopaedics B 2014, Vol 23 No 6

hindfoot abnormalities. Only mild cases of hemimelia without coalition can be corrected using the Ponseti technique [13]. In more complex cases, manipulation and casting is limited. For these cases, comprehensive surgery is necessary and normal joint motion cannot be expected. Our case with tibial hemimelia showed a complex clubfoot situation with severe hindfoot pathology. Conservative treatment was not able to correct the deformity. More extensive surgery was necessary to achieve a foot with good weight-bearing function. However, residual deformity such as rocker-bottom with instability in the Lisfranc joint or the absence of a competent ankle mortise can necessitate secondary surgery. The functional results were good for the idiopathic clubfeet that were corrected using the Ponseti method [1–5]. Morcuende et al. [1] reported dorsiflexion between 0° and 35°. In the study by Herzenberg et al. [3], dorsiflexion was between 10° and 45° (Ø 32°) and plantarflexion between 25° and 70° (Ø 50°). In this series of clubfeet with polydactyly, serial casting achieved good results. However, mobility was reduced compared with idiopathic clubfeet. The functional results are comparable with those from populations with nonidiopathic clubfeet or clubfeet with hemimelia [7,13,21]. In two series with arthrogrypotic clubfeet, the mean dorsiflexion was 15° and 5°, respectively [7,21]. The deficits in the range of motion can be ascribed to the additional hindfoot pathologies [13]. In our series, nine to 10 casts were required to correct the clubfeet with polydactyly. This is a larger number of casts compared with that required to treat most idiopathic clubfeet using the Ponseti method [1,4,5]. The mean number of casts for full correction of idiopathic clubfeet ranges from 3.8 to seven [1,2,3,4,6]. For the correction of severe clubfeet and nonidiopathic clubfeet, nine to 14 casts are not unusual [7,13,21]. There is a positive correlation between the rigid equinus, the lateral coverage of the head of the talus, and the number of casts required for correction [22]. Dyer and Davis [23] found a significantly higher Pirani score and significantly higher cast numbers in feet requiring Achilles tenotomy for full correction. This is comparable with our experience. In this series, the Pirani score of clubfeet with polydactyly ranged between 5.5 and 6. All feet had a severe equinus deformity. The hindfoot score was 3.0 in all cases. The limitations of our series are the small number of cases and the short follow-up period. We can only wait and see whether the reduction in surgical intervention to correct the clubfeet in this group with severe deformities is able to achieve better mid-term functional results. Amputation of the extra digits must be planned according to the deformity. There are two possible strategies: first, the extra digit(s) can be removed during the percutaneous Achilles tenotomy, within the scope of the Ponseti method; this makes particular sense for highly deviated

accessory digits; second, amputation can be planned for a second surgical intervention. Resection of the accessory digit can then be performed at the age of 1 year. In cases in which treatment started with casting and the polydactyly is not very complex, we recommend the former procedure. In summary, we assert that serial casting remains the first choice of treatment for treating clubfoot with polydactyly. However, it is important to customize the casts to suit the deformity. For postaxial and preaxial deformities with longitudinal alignment of the accessory digit, we recommend including the accessory digit in the cast. Thus, correction can occur in the classical sense, along the entire medial digit. If the preaxial digit(s) deviates too strongly from the first digit, we recommend modifying the casts such that the accessory digit(s) projects from a window in the cast. Such thorough casting can help avoid the need for surgical intervention in the form of posteromedial release. In these cases, percutaneous Achilles tenotomy can be used to correct the equinus deformity.

Acknowledgements Conflicts of interest

There are no conflicts of interest.

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10 11 12 13 14

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Clubfoot associated with preaxial polydactyly.

We report on three children with bilateral, congenital clubfoot. Four of the six clubfeet were associated with preaxial polydactyly. Five of the six c...
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