OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. METHODS: A patient who was admitted to Qilu Hospital of Shandong University due to "bilateral finger joint deformity, bilateral hip and knee joint movement limitation for 19 years" was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and her parents and subjected to whole exome sequencing (WES). Long-read sequencing (LRS) and Sanger sequencing were used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was classified. This study was approved by the Medical Ethics Committee of Qilu Hospital of Shandong University (Ethics No.: KYLL-202502 061). RESULTS: The patient, a 23-year-old female, presented with progressive polyarticular deformity, limited movement and abnormal growth and development since childhood. She was initially misdiagnosed as Ankylosing spondylitis and had poor response to sulphasalazine and etoricoxib treatment. WES revealed that she has harbored two heterozygous variants of the CCN6 gene (NM_198239.2), namely c.348C>A and c.676G>C. LRS confirmed that the two variants are located on two homologous chromosomes and constitute compound heterozygous variants. Based on the ACMG guidelines, both variants were rated as pathogenic (PVS1+PM2_Supporting+PM3; PM1+PM2_Supporting+PM3_Supporting+PM5+PP3_Strong). The c.676G>C variant has not been recorded by the HGMD and ClinVar databases. CONCLUSION The c.348C>A and c.676G>C compound heterozygous variants of the CCN6 gene probably underlay the pathogenesis of PPRD in this patient. Above finding has enriched the mutational spectrum of PPRD and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Female ; CCN Intercellular Signaling Proteins/genetics* ; Phenotype ; Heterozygote ; Young Adult ; Mutation ; Exome Sequencing ; Joint Diseases/congenital*

OBJECTIVE: To evaluate the effect of custom molded foot orthoses on children with growing pains of the lower extremities. METHODS: Children with growing pains were recruited during a clinic visit. None had any bony deformities, inflammatory joint disease or depression. Resting calcaneal stance position (RCSP) and calcaneal pitch angle were measured, and individual custom molded rigid foot orthoses were prescribed using the inverted orthotic technique to control for foot overpronation using the RCSP angle. Pain sites, degree and frequency of pain, and balance ability were evaluated using Balance Master computerized posturography prior to foot orthosis fitting, and 1 and 3 months later. RESULTS: Twenty children completed the study. Seventeen (75%) had overpronated feet. Significant improvements were noted after 1 and 3 months in pain degree and frequency, and after 3 months in balancing ability. CONCLUSION: The use of custom molded foot orthoses is a good method for treating children with multiple musculoskeletal pains in the leg.
Ambulatory Care ; Child* ; Congenital Abnormalities ; Depression ; Foot ; Foot Orthoses* ; Fungi ; Humans ; Joint Diseases ; Leg ; Lower Extremity* ; Musculoskeletal Pain ; Orthotic Devices ; Pediatrics ; Postural Balance

Adult ; Carrier Proteins ; genetics ; Female ; Finger Joint ; physiopathology ; Growth Differentiation Factor 5 ; genetics ; Humans ; Joint Diseases ; congenital ; genetics ; physiopathology ; Male ; Middle Aged ; Pedigree ; Young Adult

Monocephalus tripus tribrachius, a type of conjoined twins with one head and three upper and lower extremities, is a rare congenital disorder. To date, no long-term follow-up results of surgical procedures for this condition have been reported in Korean literature. We experienced a case of monocephalus tripus tribrachius, which had been surgically managed with an accessory lower limb disarticulation and pelvic bone reconstruction to manage this accessory limb and accompanying comorbidities in hip joint and pelvis. Subsequently, ipsilateral Syme amputation was done for intractable deformity of foot, and later, ipsilateral femoral varus derotational osteotomy was done for inadequate coverage of femoral head observed in follow-up. We report 18-year follow-up results of the procedures with a review of literatures.
Amputation ; Comorbidity ; Congenital Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Disarticulation* ; Extremities ; Follow-Up Studies* ; Foot ; Head ; Hip Joint ; Lower Extremity* ; Osteotomy ; Pelvic Bones* ; Pelvis ; Twins, Conjoined

Diabetic Charcot arthropathy is a severe joint disease in the foot and ankle that can result in fracture, permanent deformity, limb loss. Although recent research has improved our level of knowledge regarding its etiology and treatment, it still remains a poorly understood disease. It is a serious and potentially limb-threatening lower-extremity late complication of diabetes mellitus and its diagnosis is commonly missed upon initial presentation. Clinicians treating diabetic patients should be vigilant in recognizing early signs of acute Charcot arthropathy, such as pain, warmth, edema, or pathologic fracture in a neuropathic foot. Early detection and prompt treatment can prevent joint and bone destruction. If left untreated, it can reduce overall quality of life and dramatically increase morbidity and mortality of patients. The goal of this manuscript is to evaluate the current concepts of Charcot arthropathy through review of various literature and help clinicians decide the treatment strategy.
Ankle ; Congenital Abnormalities ; Diabetes Mellitus ; Diagnosis ; Edema ; Extremities ; Foot ; Fractures, Spontaneous ; Humans ; Joint Diseases ; Joints ; Mortality ; Quality of Life

PURPOSE: To acknowledge the importance of precise reduction of articular surface of tibial plateau fractures and to make a guideline of treatment by evaluating outcomes and effectiveness of using locking plate and minimally invasive percutaneous osteosynthesis technique. MATERIALS AND METHODS: Twenty-nine patients who underwent surgery for tibial plateau fracture from November 2005 to March 2010 were enrolled with 12 months follow-up in a retrograde manner. The Shatzker classification was used to classify fractures, and we used lateral submeniscal approach to make a precise reduction of articular surface. Radiologic evaluation was determined by presence of bone union, malalignment, and reduction loss or joint depression of articular surface. Post-operative infection, time of active movement of the knee joint, time of partial weight loading, and range of motion (ROM) of knee joint were evaluated. Lysholm Knee Score was used for functional evaluation. RESULTS: Bone union took place in all but one case that developed osteomyelitis. Angulation deformity of more than 10degrees and reduction loss or joint depression of more than 5 mm were not observed. There was one case of osteomyelitis and one case of superficial surgical site infection. There were satisfactory clinical results, with an average time of active knee joint movement and weight loading of 6 weeks. The average ROM of knee joint was 125degrees in the last follow up. As for functional evaluation using Lysholm Knee Score, cases showed an average Lysholm Knee Score of 94 which was a satisfactory result. CONCLUSION: In cases of tibial plateau fractures, if a surgeon accurately reduces the articular surface of joint and use minimally invasive locking plate it will help in bone union biologically, reducing the incidence of soft tissue injuries, and biomechanically maintaining the articular surface of the joint, proving itself to be a useful method of treatment.
Congenital Abnormalities ; Depression ; Follow-Up Studies ; Humans ; Hypogonadism ; Incidence ; Joints ; Knee ; Knee Joint ; Mitochondrial Diseases ; Ophthalmoplegia ; Osteomyelitis ; Range of Motion, Articular ; Soft Tissue Injuries

This study was done after identifying animals with a twisted carpal joint in goat herd. These included a kid goat walking on its articulus carpii and a newborn goat with a stiff leg. Necropsies of the diseased goats revealed swollen carpal joints that were twisted backwards. Arthritis was observed during microscopic examination of the carpal joints. Very low levels of eosinophil, leucocyte, and lymphocyte cell infiltration were found in the central nervous system and meninges. Serum copper levels were significantly decreased in most of the animals. All of these results led us to diagnose the animals with swayback disease.
Animals ; Animals, Newborn ; Carpal Joints/metabolism/*pathology ; Copper/blood/*deficiency/metabolism ; Female ; Goat Diseases/*congenital/metabolism/pathology ; Goats ; Joint Diseases/congenital/metabolism/pathology/*veterinary ; Male ; Pregnancy

The subtalar joint is a complex joint that is functionally responsible for inversion and eversion of the hindfoot. Advances in optical technology and surgical instrumentation have allowed the arthorscocpic surgeon to investiagate the small joints including the subtalar joint. Indications for subtalar arthroscopy include pain, swelling, stiffness and locking. Therapeutic indications include treatment of chondromalacia, osteophytes, arthrofibrosis, synovitis, loose bodies, osteochondral lesions, excision of a painful os trigonum, arthrodesis, and FHL tendinopathy. Contraindications to subtalar arthroscopy include infection, advanced osteoarthritis with deformity, severe edema, poor vascularity and poor skin quality. Subtalar arthroscopy is a technically demanding and difficult procedure that should only be performed by experienced surgeons. With proper instrumentation and careful operative techniques, satisfactory results may be obtained with minimal morbidity.
Arthrodesis ; Arthroscopy ; Cartilage Diseases ; Congenital Abnormalities ; Edema ; Joints ; Osteoarthritis ; Osteophyte ; Skin ; Subtalar Joint ; Surgical Instruments ; Synovitis ; Talus ; Tendinopathy

BACKGROUND: Symphalangism is a rare congenital difference characterized by ankylosis of interphalangeal (IP) joints of the fingers and toes. In adults, there were several attempts to restore the stiff joints into mobile ones, but these treatment options resulted in poor outcomes and could not be applied to growing children. Here, we report our experiences on surgical treatment for children who had symphalangism of the hand. METHODS: We treated 36 joints in 17 children with symphalangism of the hand using dorsal capsulotomy and collateral ligament release. The diagnoses were based on history, physical examination, and simple radiographs. Affected fingers were classified according to our grading system. Simple compressive dressing was applied using Coban after surgery. Passive range of motion (ROM) exercise was started on day one or 2 postoperative, with the help of a hand therapist and patients' parents. The patients were prescribed passive ROM exercises for at least 2 hours a day over a period of 6 months. RESULTS: A single surgeon operated on 30 proximal IP joints, 3 distal IP joints, and 3 IP joints of the thumb. Twenty six joints were classified as grade I, and 10 as grade II. The ROM of affected joints, which was 7.8 +/- 8.1 (mean +/- SD) degrees preoperatively, increased to 46.8 +/- 18.6 degrees at final follow-up. The final ROM was significantly better in grade I joints, especially when the children had operations at ages 24 months or younger. CONCLUSIONS: Symphalangism of the hand in children, can be restored into a mobile joint by release of the collateral ligament, a dorsal capsulotomy, and postoperative physical therapy.
Age Factors ; Ankylosis/radiography/surgery ; Child ; Child, Preschool ; Female ; Finger Joint/abnormalities/radiography/surgery ; Humans ; Infant ; Joint Diseases/classification/*congenital/radiography/surgery ; Ligaments/surgery ; Male ; Orthopedic Procedures/methods ; Physical Examination ; *Range of Motion, Articular ; Statistics, Nonparametric ; Treatment Outcome

BACKGROUND: Symphalangism is a rare congenital difference characterized by ankylosis of interphalangeal (IP) joints of the fingers and toes. In adults, there were several attempts to restore the stiff joints into mobile ones, but these treatment options resulted in poor outcomes and could not be applied to growing children. Here, we report our experiences on surgical treatment for children who had symphalangism of the hand. METHODS: We treated 36 joints in 17 children with symphalangism of the hand using dorsal capsulotomy and collateral ligament release. The diagnoses were based on history, physical examination, and simple radiographs. Affected fingers were classified according to our grading system. Simple compressive dressing was applied using Coban after surgery. Passive range of motion (ROM) exercise was started on day one or 2 postoperative, with the help of a hand therapist and patients' parents. The patients were prescribed passive ROM exercises for at least 2 hours a day over a period of 6 months. RESULTS: A single surgeon operated on 30 proximal IP joints, 3 distal IP joints, and 3 IP joints of the thumb. Twenty six joints were classified as grade I, and 10 as grade II. The ROM of affected joints, which was 7.8 +/- 8.1 (mean +/- SD) degrees preoperatively, increased to 46.8 +/- 18.6 degrees at final follow-up. The final ROM was significantly better in grade I joints, especially when the children had operations at ages 24 months or younger. CONCLUSIONS: Symphalangism of the hand in children, can be restored into a mobile joint by release of the collateral ligament, a dorsal capsulotomy, and postoperative physical therapy.
Age Factors ; Ankylosis/radiography/surgery ; Child ; Child, Preschool ; Female ; Finger Joint/abnormalities/radiography/surgery ; Humans ; Infant ; Joint Diseases/classification/*congenital/radiography/surgery ; Ligaments/surgery ; Male ; Orthopedic Procedures/methods ; Physical Examination ; *Range of Motion, Articular ; Statistics, Nonparametric ; Treatment Outcome