A CASE REPORT OF BILATERAL MIRROR CLUBFEET AND BILATERAL HAND POLYDACTYLY Mai P. Nguyen, MD1, Ericka A. Lawler, MD1, Jose A. Morcuende, MD, PhD1
ABSTRACT We report a rare case of a patient with bilateral mirror clubfeet and bilateral hand polydactyly. The patient presented to our orthopaedic clinic with bilateral mirror clubfeet, each with eight toes, and bilateral hands with six fingers and a hypoplastic thumb. The pattern does not fit any described syndrome such as Martin or Laurin-Sandrow syndrome. Treatments by an orthopaedic pediatric surgeon and an orthopaedic pediatric hand surgeon are described. The patient achieved excellent functional and cosmetic outcomes at four year follow-up. INTRODUCTION Mirror polydactyly of the feet is a rare diagnosis with symmetrical duplications of the digits and is usually associated with deficiency of the thumb or hallux1,2. They can occur in isolation or as part of syndromes2-4. A thorough history and physical examination is paramount because there is a spectrum of associated anomalies involving face features and other extremities1-4. Treatments must be tailored individually to correct each deformity and restore functions for the patients. Coordination among different care teams should be pursued to ensure optimum care for patients.
Figure 1a. Right hand at presentation
CASE REPORT A two-year-old female was referred to our clinic for evaluation of bilateral hand and foot deformities. The patient was adopted from China and her family history was unknown. She was born full-term and weighed seven pounds at birth. Upper extremity examination revealed hands with six fingers including a Blauth type IIIB thumb hypoplasia with deficiency of carpometacarpal joint on the right and type IV thumb hypoplasia (Pouce Flottant) on the left (Figures 1 and 2)5. She had six metacarpals Department of Orthopaedics and Rehabilitation University of Iowa Hospitals and Clinics Corresponding Author: Mai P. Nguyen, MD. Department of Orthopaedics and Rehabilitation University of Iowa Hospitals and Clinics 200 Hawkins Drive Iowa City, IA 52246 (319) 353-7013 [email protected]
1
Figure 1b. Left hand at presentation
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M. P. Nguyen, E. A. Lawler, . A. Morcuende
Figure 2a. Right hand with type IIIB thumb hypoplasia
Figure 2b. Left hand with type IV thumb hypoplasia
Figure 4. X-ray of bilateral feet at presentation Figure 3. Bilateral mirror feet at presentation
on the right and five on the left. The long bones of the arms were normal. In her lower extremities she had bilateral hind foot equinovarus, metatarsal adductus, and cavus deformities consistent with clubfeet. Each foot had eight toes, and none appeared to be a hallux (Figure 3). She had large calluses laterally from weight bearing on the outside of her feet. Radiographic examination showed eight sets of phalanges with seven metatarsals; the central toe did not have an associated metatarsal (Figure 4). She had no other anomalies and growth and development were normal. TREATMENT The patient was evaluated by an orthopaedic pediatric specialist (JM) and an orthopaedic pediatric hand
172 The Iowa Orthopaedic Journal
specialist (EL) to address her bilateral mirror feet and clubfoot deformities as well as her six fingered hands with bilateral hypoplastic thumbs. No other abnormalities were found. Surgeries were coordinated between the two surgeons to optimize care and minimize patient morbidity. The patient was treated initially with the Ponseti clubfoot protocol6. After four months of serial casting, she underwent surgical intervention with bilateral extra digit resection, anterior tibialis tendon transfer (to the lateral cuneiform) and Achilles lengthening. The medial two rays, along with the central digit which had no metatarsal, were resected. The patient was placed in bilateral long leg casts and kept non-weight bearing with transitioning to a Mitchell brace at two months post-operatively. At the same time of her foot surgery, the patient’s hands were treated with amputation of the
A Case Report of Bilateral Mirror Clubfeet and Bilateral Hand Polydactyly
Figure 6. Appearance of bilateral hands last follow-up
Figure 5. Appearance of bilateral feet at four year follow-up
hypoplastic and non-functional thumbs as well as pollicization of her adjacent accessory digit. The patient returned to the operating room three years later at age six for a left tibia derotational osteotomy for tibial torsion. She required no further surgery for the right leg. The patient was last seen in clinic four years after initiation of treatments. She wore normal shoes without pain or discomfort (Figure 5). She used her hands without limitations (Figure 6). Overall, she was doing well, was active at a level comparable to her peers, and was participating in all school events. DISCUSSION In this report, we present a case of two-year old female with bilateral mirror clubfeet and polydactyly of the hands and feet. This case highlights several important topics which merit further discussion. Clubfoot or congenital talipes equinovarus is one of the most common congenital deformities involving the musculoskeletal A system with a prevalence of 0.6 per 1000 to 6.8 per 10007. The Ponseti method with sequential manipulation and cast application has been accepted worldwide as the standard for non-operative management of clubfoot6,7. In contrary, mirror image duplication of the foot is a rare congenital anomaly. There are approximately only 30 case reports on this topic with even fewer described treatments and outcomes2,8-10. Mirror foot may occur as an isolated deformity or may be associated with a spectrum of other deformities such as fibula dimelia, tibia hypoplasia, nasal abnormalities, or upper extremities abnormalities 2, 8, 11, 12. The patient did not have any other anomalies associated with the known syndromes such as Laurin-Sandrow or Martin syndrome3,4. Limb development occurs along three axes, proximaldistal, dorsal-ventral, and anterior-posterior. Mirror
polydactyly appears to result from a disturbance of limb pattern formation in the anterior-posterior axis 1. Several genes have been shown to influence this process including the Sonic Hedgehog gene which is expressed by the zone of polarizing activity, the Homeobox genes, BMP21,13-15. Saunders and Gasseling demonstrated mirror image duplication in chicks by grafting a small piece of posterior border mesoderm (zone of polarizing activity) into an anterior position16. In humans, ectopic expression of the zone of polarizing activity and the Sonic Hedgehog gene has been linked to mirror image deformities10,17. There have been case reports of tetramelic mirror image deformities affecting all four extremities1. Since the anterior-posterior axis formation includes radial/ulnar axis formation for the upper extremities and tibia/fibula axis formation for the lower extremities, congenital abnormality of feet are sometimes associated with hand deformities such as the patient in this case. Interestingly, these deformities of the hands and feet are usually associated with missing of the hallux and thumb, similar to what was seen in this patient1. This case report highlights the challenges that our orthopaedic surgeons face in treating patients with congenital deformities affecting all four extremities. There is no protocol for treatments of such complex deformities. Thus, an analysis of each limb is important in order to adequately address every deformity. While thumb reconstruction is crucial to improve upper extremity function, hallux restoration is not absolutely necessary. In contrast, the goals of foot reconstruction are more cosmetic, but also to allow for painless plantigrade feet that accept normal shoewear. The treatments may be staged, allowing the patient to recover while limiting anesthesia time and the number of return trips to the operating room. Outcomes have been reported to be fair to good with surgical intervention in the literature2,9,10. Treatments in patients with mirror feet require careful considerations of other associated anomalies and the best outcomes require collaboration between multiple surgeons.
Volume 34 173
M. P. Nguyen, E. A. Lawler, . A. Morcuende REFERENCES 1. Kim KC, Wakui K, Yamagishi A, et al. Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. American Journal of Medical Genetics. 1997; 68: 70. 2. Fukazawa H, Kawabata H, Matsui Y. Mirror foot: treatment of three cases and review of the literature. J Child Orthop. 2009; 3: 277. 3. Laurin CA, Favreau JC, Labelle P. Bilateral absence of the radius and tibia with bilateral reduplication of the ulna and fibula. A case report. J Bone Joint Surg Am. 1964; 46: 137. 4. Martin RA, Jones MC, Jones KL. Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. Am J Med Genet. 1993; 46: 129. B for polydactyly 5.A Wassel HD. The results of surgery of the thumb. A review. Clin Orthop Relat Res. 1969; 64: 175. 6. Ponseti I. Treatment of Congenital Clubfoot. J Bone Joint Surg. 1992; 74A: 448. 7. Kasser JR. Lovell and Winter’s Pediatric Orthopaedics, 6th edition. Morrissy RT, Weinstein SL (Eds). Philadelphia: Lippincott Williams & Wilkins. 2006: p1262 8. Verghese R, Shah H, Rebello G, et al. Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg. J Child Orthop. 2007; 1: 49.
174 The Iowa Orthopaedic Journal
9. Sudesh P, Kumar V, Jain M, et al. Mirror foot and our surgical experience: A case report and literature review. The foot. 2010; 20: 44. 10. Mishra A, Nelson K, McArthur P. Mirror foot – a reflection on three cases. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2010; 63: 2146. 11. Rayram H, Herdem M, Temocin AK. Fibular dimelia and mirror foot without associated anomalies. Clin Genet. 1996; 49: 311 12. Jose RM, Kamath AK, Vijayaraghavan S, et al. Tibial hemimelia with ‘mirror foot’. Eur J Plast Surg. 2004; 27: 39. 13. Morgan BA, Tabin CJ. The role of homeobox genes in limb development. Curr Biol 1993; 3: 668. 14. Rao VV, Loffler C, Wozney JM, et al. The gene for BMP2A is C localized to human chromosome 20p12 by radioactive and non-radioactive in situ hybridization. Hum Genet. 1992; 90: 299. 15. Riddle RD, Johnson RL, Laufer E, et al. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell. 1993; 75: 1401. 16. Saunders JW, Gasselind MT. Epithelial-mesenchymal interactions. Fleishnajer R, Billingham RE (Eds). Baltimore: Williams &Wilkins. 1968: p 78. 17. Viljoen DL, Kidson SH. Mirror polydactyly: pathogenesis based on a morphogen gradient theory. Am J Med Genet. 1990; 35: 229
ABSTRACT We report a rare case of a patient with bilateral mirror clubfeet and bilateral hand polydactyly. The patient presented to our orthopaedic clinic with bilateral mirror clubfeet, each with eight toes, and bilateral hands with six fingers and a hypoplastic thumb. The pattern does not fit any described syndrome such as Martin or Laurin-Sandrow syndrome. Treatments by an orthopaedic pediatric surgeon and an orthopaedic pediatric hand surgeon are described. The patient achieved excellent functional and cosmetic outcomes at four year follow-up. INTRODUCTION Mirror polydactyly of the feet is a rare diagnosis with symmetrical duplications of the digits and is usually associated with deficiency of the thumb or hallux1,2. They can occur in isolation or as part of syndromes2-4. A thorough history and physical examination is paramount because there is a spectrum of associated anomalies involving face features and other extremities1-4. Treatments must be tailored individually to correct each deformity and restore functions for the patients. Coordination among different care teams should be pursued to ensure optimum care for patients.
Figure 1a. Right hand at presentation
CASE REPORT A two-year-old female was referred to our clinic for evaluation of bilateral hand and foot deformities. The patient was adopted from China and her family history was unknown. She was born full-term and weighed seven pounds at birth. Upper extremity examination revealed hands with six fingers including a Blauth type IIIB thumb hypoplasia with deficiency of carpometacarpal joint on the right and type IV thumb hypoplasia (Pouce Flottant) on the left (Figures 1 and 2)5. She had six metacarpals Department of Orthopaedics and Rehabilitation University of Iowa Hospitals and Clinics Corresponding Author: Mai P. Nguyen, MD. Department of Orthopaedics and Rehabilitation University of Iowa Hospitals and Clinics 200 Hawkins Drive Iowa City, IA 52246 (319) 353-7013 [email protected]
1
Figure 1b. Left hand at presentation
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M. P. Nguyen, E. A. Lawler, . A. Morcuende
Figure 2a. Right hand with type IIIB thumb hypoplasia
Figure 2b. Left hand with type IV thumb hypoplasia
Figure 4. X-ray of bilateral feet at presentation Figure 3. Bilateral mirror feet at presentation
on the right and five on the left. The long bones of the arms were normal. In her lower extremities she had bilateral hind foot equinovarus, metatarsal adductus, and cavus deformities consistent with clubfeet. Each foot had eight toes, and none appeared to be a hallux (Figure 3). She had large calluses laterally from weight bearing on the outside of her feet. Radiographic examination showed eight sets of phalanges with seven metatarsals; the central toe did not have an associated metatarsal (Figure 4). She had no other anomalies and growth and development were normal. TREATMENT The patient was evaluated by an orthopaedic pediatric specialist (JM) and an orthopaedic pediatric hand
172 The Iowa Orthopaedic Journal
specialist (EL) to address her bilateral mirror feet and clubfoot deformities as well as her six fingered hands with bilateral hypoplastic thumbs. No other abnormalities were found. Surgeries were coordinated between the two surgeons to optimize care and minimize patient morbidity. The patient was treated initially with the Ponseti clubfoot protocol6. After four months of serial casting, she underwent surgical intervention with bilateral extra digit resection, anterior tibialis tendon transfer (to the lateral cuneiform) and Achilles lengthening. The medial two rays, along with the central digit which had no metatarsal, were resected. The patient was placed in bilateral long leg casts and kept non-weight bearing with transitioning to a Mitchell brace at two months post-operatively. At the same time of her foot surgery, the patient’s hands were treated with amputation of the
A Case Report of Bilateral Mirror Clubfeet and Bilateral Hand Polydactyly
Figure 6. Appearance of bilateral hands last follow-up
Figure 5. Appearance of bilateral feet at four year follow-up
hypoplastic and non-functional thumbs as well as pollicization of her adjacent accessory digit. The patient returned to the operating room three years later at age six for a left tibia derotational osteotomy for tibial torsion. She required no further surgery for the right leg. The patient was last seen in clinic four years after initiation of treatments. She wore normal shoes without pain or discomfort (Figure 5). She used her hands without limitations (Figure 6). Overall, she was doing well, was active at a level comparable to her peers, and was participating in all school events. DISCUSSION In this report, we present a case of two-year old female with bilateral mirror clubfeet and polydactyly of the hands and feet. This case highlights several important topics which merit further discussion. Clubfoot or congenital talipes equinovarus is one of the most common congenital deformities involving the musculoskeletal A system with a prevalence of 0.6 per 1000 to 6.8 per 10007. The Ponseti method with sequential manipulation and cast application has been accepted worldwide as the standard for non-operative management of clubfoot6,7. In contrary, mirror image duplication of the foot is a rare congenital anomaly. There are approximately only 30 case reports on this topic with even fewer described treatments and outcomes2,8-10. Mirror foot may occur as an isolated deformity or may be associated with a spectrum of other deformities such as fibula dimelia, tibia hypoplasia, nasal abnormalities, or upper extremities abnormalities 2, 8, 11, 12. The patient did not have any other anomalies associated with the known syndromes such as Laurin-Sandrow or Martin syndrome3,4. Limb development occurs along three axes, proximaldistal, dorsal-ventral, and anterior-posterior. Mirror
polydactyly appears to result from a disturbance of limb pattern formation in the anterior-posterior axis 1. Several genes have been shown to influence this process including the Sonic Hedgehog gene which is expressed by the zone of polarizing activity, the Homeobox genes, BMP21,13-15. Saunders and Gasseling demonstrated mirror image duplication in chicks by grafting a small piece of posterior border mesoderm (zone of polarizing activity) into an anterior position16. In humans, ectopic expression of the zone of polarizing activity and the Sonic Hedgehog gene has been linked to mirror image deformities10,17. There have been case reports of tetramelic mirror image deformities affecting all four extremities1. Since the anterior-posterior axis formation includes radial/ulnar axis formation for the upper extremities and tibia/fibula axis formation for the lower extremities, congenital abnormality of feet are sometimes associated with hand deformities such as the patient in this case. Interestingly, these deformities of the hands and feet are usually associated with missing of the hallux and thumb, similar to what was seen in this patient1. This case report highlights the challenges that our orthopaedic surgeons face in treating patients with congenital deformities affecting all four extremities. There is no protocol for treatments of such complex deformities. Thus, an analysis of each limb is important in order to adequately address every deformity. While thumb reconstruction is crucial to improve upper extremity function, hallux restoration is not absolutely necessary. In contrast, the goals of foot reconstruction are more cosmetic, but also to allow for painless plantigrade feet that accept normal shoewear. The treatments may be staged, allowing the patient to recover while limiting anesthesia time and the number of return trips to the operating room. Outcomes have been reported to be fair to good with surgical intervention in the literature2,9,10. Treatments in patients with mirror feet require careful considerations of other associated anomalies and the best outcomes require collaboration between multiple surgeons.
Volume 34 173
M. P. Nguyen, E. A. Lawler, . A. Morcuende REFERENCES 1. Kim KC, Wakui K, Yamagishi A, et al. Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. American Journal of Medical Genetics. 1997; 68: 70. 2. Fukazawa H, Kawabata H, Matsui Y. Mirror foot: treatment of three cases and review of the literature. J Child Orthop. 2009; 3: 277. 3. Laurin CA, Favreau JC, Labelle P. Bilateral absence of the radius and tibia with bilateral reduplication of the ulna and fibula. A case report. J Bone Joint Surg Am. 1964; 46: 137. 4. Martin RA, Jones MC, Jones KL. Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. Am J Med Genet. 1993; 46: 129. B for polydactyly 5.A Wassel HD. The results of surgery of the thumb. A review. Clin Orthop Relat Res. 1969; 64: 175. 6. Ponseti I. Treatment of Congenital Clubfoot. J Bone Joint Surg. 1992; 74A: 448. 7. Kasser JR. Lovell and Winter’s Pediatric Orthopaedics, 6th edition. Morrissy RT, Weinstein SL (Eds). Philadelphia: Lippincott Williams & Wilkins. 2006: p1262 8. Verghese R, Shah H, Rebello G, et al. Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg. J Child Orthop. 2007; 1: 49.
174 The Iowa Orthopaedic Journal
9. Sudesh P, Kumar V, Jain M, et al. Mirror foot and our surgical experience: A case report and literature review. The foot. 2010; 20: 44. 10. Mishra A, Nelson K, McArthur P. Mirror foot – a reflection on three cases. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2010; 63: 2146. 11. Rayram H, Herdem M, Temocin AK. Fibular dimelia and mirror foot without associated anomalies. Clin Genet. 1996; 49: 311 12. Jose RM, Kamath AK, Vijayaraghavan S, et al. Tibial hemimelia with ‘mirror foot’. Eur J Plast Surg. 2004; 27: 39. 13. Morgan BA, Tabin CJ. The role of homeobox genes in limb development. Curr Biol 1993; 3: 668. 14. Rao VV, Loffler C, Wozney JM, et al. The gene for BMP2A is C localized to human chromosome 20p12 by radioactive and non-radioactive in situ hybridization. Hum Genet. 1992; 90: 299. 15. Riddle RD, Johnson RL, Laufer E, et al. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell. 1993; 75: 1401. 16. Saunders JW, Gasselind MT. Epithelial-mesenchymal interactions. Fleishnajer R, Billingham RE (Eds). Baltimore: Williams &Wilkins. 1968: p 78. 17. Viljoen DL, Kidson SH. Mirror polydactyly: pathogenesis based on a morphogen gradient theory. Am J Med Genet. 1990; 35: 229
