OBJECTIVE: To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing. METHODS: Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree. RESULTS: NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene. CONCLUSION The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.
Adaptor Proteins, Signal Transducing/genetics* ; Apoptosis Regulatory Proteins/genetics* ; Charcot-Marie-Tooth Disease/genetics* ; Child ; Female ; Fibula/abnormalities* ; Homozygote ; Humans ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.
Comparative Genomic Hybridization ; Congenital Abnormalities ; Extremities ; Femur ; Fibula ; Foot ; Genetic Heterogeneity ; Hand ; Prenatal Diagnosis*

This case report presents two patients who underwent fibular strut grafting for complex revisions of previous lumbar spine arthrodeses. A case review of the Electronic Medical Record at the index institution was performed to evaluate the timeline of events of the two patients who underwent fibular strut grafting for complex revisions of previous lumbar spine arthrodesis, including imaging studies, progress notes, and laboratory results. One patient had developed chronic L3 vertebral body osteomyelitis from a prior fibular allograft and instrumentation placed for a traumatic burst fracture. The second patient had a severe scoliosis recalcitrant to prior arthrodeses in the context of Marfan syndrome and a persistent L4-5 pseudarthrosis. Both patients underwent free vascularized fibular autograft revision arthrodeses. At most recent long-term follow-up, both patients had improved clinically and neither had required further revision. The use of free vascularized fibular grafting is an excellent option for a variety of spinal indications, and these two reports indicate that the technology may have an indication for use after multiple failed surgeries for osteomyelitis or correction of a multi-level large spinal deformity secondary to Marfan syndrome.
Allografts ; Arthrodesis ; Autografts* ; Congenital Abnormalities ; Electronic Health Records ; Fibula ; Follow-Up Studies ; Humans ; Lumbar Vertebrae ; Marfan Syndrome ; Osteomyelitis ; Pseudarthrosis ; Scoliosis ; Spine* ; Transplants

PURPOSE: Preshaped Locking compression plate(LCP) has holes with fixed angle between screw and plate and have advantage firm fixation because it has stability of angular and axial deformity. We evaluated usefulness of LCP after open reduction and internal fixation in distal fibular fracture. MATERIALS AND METHODS: Between December 2011 and May 2012, 23 patients with fracture of distal fibula were followed up at least 12 months underwent open reduction and internal fixation with LCP. There were 15 males and 8 females with a mean age 39.8(20~69) years. According to Danis-Weber classification, there were 20 cases of type B and 3 cases of type C. There were 13 cases of isolated lateral malleolus fractures, 1 case of bimalleolar fracture, 6 cases of trimalleolar fractures and 3 cases of distal tibia fractures with proximal fibula fracture. Intraoperatively, we assessed whether preshaped LCP fit lateral margin of distal fibula or not and evaluated quality of reduction and postoperative complications. The cases were analyzed by radiological bone union time and clinical results according to the criteria of Meyer. RESULTS: Of all cases, complete bone union was achieved and average radiological bone union time was 7.3(6~12) weeks. The clinical results were excellent in 18 cases(78%), good in 5 cases(22%). There were 5 cases of plate with 3 holes, 13 cases of plate with 4 holes, 2 cases of plate with 5 holes, 1 case of plate with 6 holes and 2 cases of plate with 7 holes. The average number of screws at proximal fragement was 2.5 and at distal fragment was 3.5. In 14 cases (60.8%), we needed re-bending of plate because the distance between plate and lateral cortical margin of distal fibula was more than 5 mm at anteroposterior X-ray after reduction. All cases have anatomical reduction and there were no complications of wound infections. There were no complaint about hardware irritation. CONCLUSION: At fractures of distal fibula,preshaped LCP had a excellent stability although far cortex was not fixed with screw and bending of plate. And there are less complications of hardware irritation and wound problems. But, Some complement would be needed because there were no complete fitting between precontour of LCP and lateral cortical margin of distal fibula.
Ankle Joint ; Complement System Proteins ; Congenital Abnormalities ; Female ; Fibula ; Humans ; Imidazoles ; Male ; Nitro Compounds ; Postoperative Complications ; Tibia ; Wound Infection

Pilon fractures involving distal tibia remain one of the most difficult therapeutic challenges that confront the orthopedic surgeons because of associated soft tissue injury is common. To introduce and describe the diagnosis, current treatment, results and complications of the pilon fractures. In initial assessment, the correct evaluation of the fracture type through radiographic checkup and examination of the soft tissue envelope is needed to decide appropriate treatment planning of pilon fractures. Even though Ruedi and Allgower reported 74% good and excellent results with primary open reduction and internal fixation, recently the second staged treatment of pilon fractures is preferred to orthopedic traumatologist because of the soft tissue problem is common after primary open reduction and internal fixation. The components of the first stage are focused primarily on stabilization of the soft tissue envelope. If fibula is fractured, fibular open reduction and internal fixation is integral part of initial management for reducing the majority of tibial deformities. Ankle-spanning temporary external fixator is used to restore limb alignment and displaced intraarticular fragments through ligamentotaxis and distraction. And the second stage, definitive open reduction and internal fixation of the tibial component, is undertaken when the soft tissue injury has resolved and no infection sign is seen on pin site of external fixator. The goals of definitive internal fixation should include absolute stability and interfragmentary compression of reduced articular segments, stable fixation of the articular segment to the tibial diaphysis, and restoration of coronal, transverse, and sagittal plane alignments. The location, rigidity, and kinds of the implants are based on each individual fractures. The conventional plate fixation has more advantages in anatomical reduction of intraarticular fractures than locking compression plate. But it has more complications as infection, delayed union and nonunion. The locking compression plate fixation provides greater stability and lesser wound problem than conventional implants. But the locking compression plate remains poorly defined for intraarticular fractures of the distal tibia. Active, active assisted, passive range of motion of the ankle is recommended when postoperative rehabilitation is started. Splinting with the foot in neutral is continued until suture is removed at the 2~3 weeks and weight bearing is delayed for approximately 12 weeks. The recognition of the soft tissue injury has evolved as a critical component of the management of pilon fractures. At this point, the second staged treatment of pilon fractures is good treatment option because of it is designed to promote recovery of the soft tissue envelope in first stage operation and get a good result in definitive reduction and stabilization of the articular surface and axial alignment in second stage operation.
Animals ; Ankle ; Congenital Abnormalities ; Diaphyses ; External Fixators ; Extremities ; Fibula ; Foot ; Intra-Articular Fractures ; Orthopedics ; Range of Motion, Articular ; Soft Tissue Injuries ; Splints ; Sutures ; Tibia ; Weight-Bearing

Parry-Romberg syndrome is an extremely rare connective tissue disorder. It might be a form of linear scleroderma, and it manifests as progressive hemifacial atrophy, epilepsy, exophthalmos or alopecia. Herein we report a case of Parry-Romberg syndrome. A 68-year-old woman had left hemifacial atrophy, shortening and deformity of the left leg, and deformities to her side fingers that occurred from her 1st decade to 2nd decade. Sclerotic change had stopped spontaneously when she was 20 years old. Histopathologically, there were a few signs of skin appendages, but no sclerotic change. On autoimmune antibody test, no positivity was shown. X-ray showed shrinkage of the lung field, elevation of the left diaphragm, shortening of length and reduction of bone mass in the left femur, tibia, and fibula. And there were multiple melorheostasis. Neck CT showed left facial sclerotic change, bone mass loss, and multiple melorheostasis. Because the progression of sclerosis had stopped the patient did not receive any treatment.
Aged ; Alopecia ; Congenital Abnormalities ; Connective Tissue ; Diaphragm ; Epilepsy ; Exophthalmos ; Facial Hemiatrophy ; Female ; Femur ; Fibula ; Fingers ; Humans ; Leg ; Lower Extremity ; Lung ; Neck ; Scleroderma, Localized ; Sclerosis ; Skin ; Tibia

Purpose: Tibial torsion is the external rotation of the distal tibia in comparison with the proximal tibia. Rotational deformity of the tibia as a complication of tibial shaft fracture means the loss of tibial torsion. Therefore, evaluating the torsion or the rotation of the distal tibia is the first step in reducing the rotational deformity of the tibia. There are two methods for evaluating the tibial torsion, a method with CT and a method with C-arm. In both methods, the anatomical landmark for evaluation is most important. The ratio of the tibiofibular overlap and fibula width (Tibiofibular Overlap Ratio) is a landmark commonly used to evaluate the tibial torsion. Materials and Methods: The tibial torsion angle and Tibiofibular Overlap Ratio of both legs in 79 cases (48 males and 31 females; mean age 46.2 years) were measured and compared. These 79 cases received 2-D CT of the knee and ankle of both legs. To evaluate the prediction for neutral rotation of the tibia using the contralateral tibia-fibula image, 20 orthopedic residents and nurses were asked to select the same rotational tibia image among the 31 rotational 3-D CT images from 15o external rotation to 15degrees internal rotation in comparison with the mirror image. Results: There was no significant between the comparisons of the tibia torsion angle and Tibiofibular Overlap Ratio in both legs in the 79 cases. Ten orthopedic residents were able to predict the tibia rotational angle within an external rotation of 3degrees and internal rotation of 3degrees. Ten nurses were able to predict the tibia rotational angle within an external rotation of 5degrees and internal rotation of 5degrees. Conclusion: The Tibiofibular Overlap Ratio may be the simple and useful method for predicting the neutral rotation of the tibia.
Ankle ; Congenital Abnormalities ; Female ; Fibula ; Humans ; Knee ; Leg ; Male ; Orthopedics ; Tibia*

The osteochondroma is a cartilage-capped exostosis resulting from an error in the regulation of normal chondrocyte proliferation and maturation that leads to a normal bone growth. Although exostoses are benign lesions, they are often associated with characteristic progressive skeletal deformities and may cause clinical symptoms. Surgery can prevent progression and provide correction for certain deformities. We experienced a rare case of solitary osteochondroma in a 21-year-old male which caused the valgus deformity of the ankle.
Ankle* ; Bone Development ; Chondrocytes ; Congenital Abnormalities* ; Exostoses ; Fibula* ; Humans ; Joints* ; Male ; Osteochondroma* ; Young Adult

PURPOSE: The purposes of this study were to evaluate the efficacy of deformity correction of the knee and leg lengthening by the Ilizarov method in patients with vitamin D resistant rickets (VDRR) . MATERIALS AND METHODS: There were 7 patients with average age of 13 years and 6 months. 5 patients had genu varum and 2, genu valgum. 3 patients underwent deformity correction alone in 4 femora, and the remaining 4 patients underwent concomitant deformity correction and lengthening in 5 femora, and 12 tibiae and fibulae. RESULTS: Angular correction averaged 22.6. and the amount of lengthening averaged 3.5 cm. The healing index (H.I) averaged 2.1 month/cm. But those who had serum phosphate level more than 2.5 mg/dL showed rapid regenerate bone healing (H.I: 1.6 month/cm) . There was a statistically negative correlation between H.I and the level of serum phosphate. CONCLUSION: Maintenance of appropriate serum phosphate level (> or = 2.5 mg/dL) is important for satisfactory regenerate bone healing in due time in patients with VDRR. The recurrence rate of deformity appears to be relatively higher in immature patients.
Child* ; Congenital Abnormalities* ; Familial Hypophosphatemic Rickets* ; Fibula ; Genu Valgum ; Genu Varum ; Humans ; Ilizarov Technique* ; Knee* ; Leg* ; Recurrence ; Tibia ; Vitamin D* ; Vitamins*

Microsurgical reconstruction is necessary for children to correct severe trauma and congenital or acuqired deformity. The aim of this study was to evaluate whether or not microsurgical reconstruction is a safe and reliable operation in children and to analyze the differences of microsurgical reconstruction in children compared to adults. The study included 12 children who underwent 13 microsurgical reconstructions among a total of 251 cases of microsurgical reconstruction from May, 1986 to August, 1998. Their ages ranged from 24 months to 14 years and 8 months. There were 7 males and 6 females. The involved sites were 9 legs, 3 hands and 1 face. The causes of microsurgical reconstruction were 9 traumas, 2 congenital anomalies, 1 acquired deformity and 1 cancer. The applied flaps were 4 scapular flaps, 2 rectus abdominis muscle flaps, 1 de-epithelized groin flap, 1 lateral arm flap, 1 forearm tendocutaneous flap, 1 forearm tendocutaneous flap, 1 latissimus dorsi muscle flap, 1 fibula flap, 1 second toe transfer, and 1 wrap-around flap. All patients have had normal growth of the donor and recipient sites without specific complications during an average 2 years follow-up. We concluded that microvascular reconstruction is a very useful and reliable procedure in children if it is performed in consideration of each child's specific characteristics and conditions.
Adult ; Arm ; Child ; Congenital Abnormalities ; Female ; Fibula ; Follow-Up Studies ; Forearm ; Groin ; Hand ; Humans ; Leg ; Male ; Rectus Abdominis ; Superficial Back Muscles ; Tissue Donors ; Toes