OBJECTIVE: To investigate the characteristics of foot deformities in patients with Charcot-Marie-Tooth (CMT) disease compared with normal persons according to severity of disease. METHOD: Sixty-two patients with CMT disease were recruited for this study. The normal control group was composed of 28 healthy people without any foot deformity. Patients were classified into a mild group and a moderate group according to the CMT neuropathy score. Ten typical radiological angles representing foot deformities such as pes equinus and pes varus were measured. The CMT group angles were compared with those of the normal control group, and those of the mild group were also compared with those of the moderate group. RESULTS: The lateral (Lat.) talo-first metatarsal angle, anteroposterior talo-first metatarsal angle, Lat. calcaneal-first metatarsal angle, Lat. naviocuboid overlap, Lat. calcaneal pitch, Lat. tibiocalcaneal angle, and Lat. talocalcaneal angle in the CMT group showed a significant difference compared to the normal control group (p<0.05). These findings revealed CMT patients have pes cavus, forefoot adduction, midfoot supination and pes varus deformity. Compared to the mild group, the moderate group significantly showed an increased Lat. calcaneal pitch and decreased Lat. calcaneal-first metatarsal angle, Lat. tibiocalcaneal angle, Lat. talocalcaneal angle, and Lat. talo-first metatarsal angle (p<0.05). These findings revealed that the pes cavus deformity of CMT patients tend to be worse with disease severity. CONCLUSION: The characteristic equinovarus foot deformity patterns in CMT patients were revealed and these deformities tended to be worse with disease severity. Radiographic measures may be useful for the investigation of foot deformities in CMT patients.
Charcot-Marie-Tooth Disease ; Clubfoot ; Congenital Abnormalities ; Foot ; Foot Deformities ; Humans ; Metatarsal Bones ; Supination

Correction and stabilization for deformed feet were performed on 372 feet in 309 patients under 17 years old age at the Sam Yook Rehabilitation Center. Review of statistics, technical problems, and complications has led to followings :1. Cerebral palsy and residual poliomyelitis were the most common etiology. 2. Equinovarus deformity and its conjoined cavus deformity were the most common deformity. 3. In soft tissue surgery, tendo calcaneus lengthening was the most common procedure, and next, plantar fasciotomy. 4. In bone surgery, triple arthrodesis was the most common procedure, especially Ryerson technique. 5. Almost patients impraved their stand and gait pattern by operation.
Achilles Tendon ; Arthrodesis ; Cerebral Palsy ; Clubfoot ; Congenital Abnormalities ; Foot Deformities ; Foot ; Gait ; Humans ; Poliomyelitis ; Rehabilitation Centers

Triple arthrodesis is performed to obtain stable stature and walking, to eliminate pain, to correct the deformities of the foot. This is the result of 92 feet triple arthrodesis over a period from 1976 to 1991 at the Department of Orthopaedic Surgery, Yonsei University College of Medicine. The results are as follows 1. Mean age was 17.6 years, ranged from 10 to 51 years. 2. Of the total of 92 feet, sequelae of poliomyelitis was the most common etiology with 58 feet(63%). 3. Most common type of foot deformity was talipes equinovarus with 52 feet(56%). 4. Internal fixation was done with staple or Steinmann pin combined with autogenous bone graft. Among them, using of 2 staples was the most common fixation method, 47 cases(51%). 5. As necessary, triple arthrodesis was combined with tendo-calcaneus lengthening, plantar fasciotomy, posterior capsulotomy, modified Jones operation and tibiotalar arthrodesis. 6. Final results were ideal. in 22 cases(24%), good in 51 cases(56%), fair in 16 cases(17%) and fail in 3 cases(3%). 7. There were 2 cases of pseudoarthrosis and 1 case of residual equinus deformity after operation. In conclusion, triple arthrodesis was the efficient method of treatment for the deformed feet in skeletally matured patients.
Arthrodesis ; Clubfoot ; Congenital Abnormalities ; Equinus Deformity ; Foot Deformities ; Foot ; Humans ; Methods ; Poliomyelitis ; Posterior Capsulotomy ; Pseudarthrosis ; Transplants ; Walking

Macrodystrophia lipomatosa is a congenital macrodactyly characterized by progressive overgrowth of all the mesenchymal elements of a digit or digits with a disproportionate increase in the fibroadipose tissue. We reported a case of macrodystrophia lipomatosa of the foot, which is a rare case, and reviewed the literatures.
Fingers ; Foot ; Limb Deformities, Congenital

OBJECTIVE: Selective neurotomy is generally a safe, effective, and long-lasting treatment for patients with spastic equinovarus foot deformity. We retrospectively analyzed the results of microsurgical selective tibial neurotomy (STN) for spastic feet in adults and children. METHODS: A neurosurgeon selected 32 patients with 45 spastic feet (adults : 13, children : 32) to undergo microsurgical STN between October 1998 and September 2007. A physician of rehabilitation assessed spasticity pre- and postoperatively, that was based on the Ashworth scale, ankle clonus, and the amplitude of ankle dorsiflexion. The mean postoperative follow-up period was 36.7 months in adults and 42.5 months in children. RESULTS: Spastic components of the feet were corrected immediately after surgery in both the adult and child groups. The mean Ashworth's grade changed from 3.6 +/- 0.40 to 1.6 +/- 0.70 in adults and from 3.7 +/- 0.69 to 1.4 +/- 0.49 in children. Mean ankle clonus decreased markedly, from 1.6 +/- 0.79 to 0.3 +/- 0.42 in adults and from 1.7 +/- 0.65 to 0.3 +/- 0.56 in children. The mean amplitude of ankle dorsiflexion was improved, but eight (adults: 4, children: 4) contracted feet needed complementary orthopedic correction for acceptable results. CONCLUSION: STN can be effective in the long-term for improving lower limb function and reduction of equinovarus deformity. Our results demonstrate that STN might be an effective procedure for treating localized harmful spastic feet in adults and children.
Adult ; Animals ; Ankle ; Child ; Clubfoot ; Congenital Abnormalities ; Contracts ; Follow-Up Studies ; Foot ; Foot Deformities ; Humans ; Lower Extremity ; Muscle Spasticity ; Orthopedics ; Retrospective Studies

Three cases of Volkmann's ischemic contracture in the lower extremity, which is relatively rare manifestation, are reported, One case has occurred as a complication of snake-bite, another was followed by CO intoxication and the third was caused by a direct trauma, which gave a rupture of the main artery in the thigh. The common clinical manifestation were deformity of the foot as equinus, equinovarus and cavus deformities. One case had an additional flexion contracture of the knee. One case was opearted by Achilles tendon lengthening, posterior capsulotomy of the ankle, and plantar fasciotomy, another case was operated by supracondylar osteotomy of the femur in order to correct flexion deformity of the knee followed by B-K amputation, the third was operated by triple arthrodesis of the foot with dorsal wedging.
Achilles Tendon ; Amputation ; Ankle ; Arteries ; Arthrodesis ; Clubfoot ; Congenital Abnormalities ; Contracture ; Femur ; Foot ; Foot Deformities ; Ischemic Contracture ; Knee ; Lower Extremity ; Osteotomy ; Posterior Capsulotomy ; Rupture ; Thigh

Child ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Male ; Pedigree

OBJECTIVE: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation. RESULTS: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes. CONCLUSION Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
China ; DNA Copy Number Variations/genetics* ; Foot Deformities, Congenital/genetics* ; Hand Deformities, Congenital/genetics* ; Humans ; Pedigree

Hemimegalencephaly is a rare congenital malformation of the cortical development arising from abnormal proliferation of anomalous neuronal and glial cells. The characteristic clinical manifestations are macrocephaly, psycomotor retardation, intractable seizure and hemihypertrophy of face, body and extremities, but musculoskeletal deformities are reported only in case of epidermal nevus syndrome. We report a case of hemimegalencephaly that was associated with foot deformity, without symptoms and signs of epidermal nevus syndrome.
Congenital Abnormalities ; Extremities ; Foot Deformities ; Foot Deformities, Congenital ; Macrocephaly ; Malformations of Cortical Development ; Neuroglia ; Neurons ; Nevus ; Nevus, Sebaceous of Jadassohn ; Seizures

OBJECTIVETo explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).

METHODSPeripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.

RESULTSMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.

CONCLUSIONThe genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.

Chromosomes, Human, Pair 10 ; genetics ; Female ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Mutation ; genetics ; Pedigree