OBJECTIVE: To evaluate the functional and aesthetic evaluation of external fixator lengthening through plantar approach for fourth brachymetatarsia. METHODS: A retrospective analysis was conducted on 20 patients (23 feet) with fourth brachymetatarsia who met the selection criteria between January 2016 and January 2024, including 3 males and 17 females, with 8 left, 9 right, and 3 bilateral cases. The mean age was 24.7 years (range, 14-51 years). The preoperative metatarsal shortening length was (13.8±3.2) mm. The preoperative American Orthopaedic Foot and Ankle Society (AOFAS) forefoot score was 79.5±3.9, the visual analogue scale (VAS) score of appearance satisfaction was 1.7±0.8, and the appearance index (AI) score was 13.6±0.9. All patients underwent external fixator lengthening through plantar approach. The lengthening length of metatarsal bone, lengthening ratio, healing time, and healing index were recorded. Functional outcomes were assessed using the AOFAS forefoot score, VAS score of appearance satisfaction, and quality-of-life impact with AI questionnaire. RESULTS: All 20 patients were followed up 14-55 months with an average of 36.3 months. During the follow-up, complications occurred in 4 cases (17.4%), including 2 cases of metatarsophalangeal joint stiffness, which had no significant effect on the function and appearance. Delayed union of osteotomy occurred in 1 case (healed at 12 weeks after operation). Pin loosening occurred in 1 case and recovered after outpatient reinforcement. No complications related to plantar scar occurred. At last follow-up, the lengthening length of metatarsal bone was (13.9±3.1) mm, and the lengthening ratio was 25.8%±5.6%. All cases achieved bony union, with a mean healing time of (64.3±12.5) days and a healing index of (46.9±4.8) d/cm. At last follow-up, AOFAS score was 98.9±2.1, the VAS score of appearance satisfaction was 9.3±0.7, and the AI score was 0.6±0.8, which significantly improved when compared with those before operation ( t=27.398, P<0.001; t=32.994, P<0.001; t=56.135, P<0.001). CONCLUSION External fixator lengthening through plantar approach is a safe and effective technique for fourth brachymetatarsia, achieving satisfactory functional and aesthetic outcomes.
Humans ; Male ; Female ; Adult ; External Fixators ; Retrospective Studies ; Bone Lengthening/instrumentation* ; Middle Aged ; Metatarsal Bones/abnormalities* ; Adolescent ; Young Adult ; Treatment Outcome ; Patient Satisfaction ; Esthetics ; Osteotomy/methods* ; Foot Deformities, Congenital/surgery*

OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

OBJECTIVE: To explore clinical efficacy of congenital brachymetatarsia with immediate metatarsal lengthening. METHODS: From March 2015 to December 2020, 7 patients with brachymetatarsia were treated, including 6 females and 1 male;aged range from 18 to 30 years old;there were 5 patients with metatarsal microsomia on one foot, 2 patients with metatarsal microsomia on the first and fourth right foot, and immediate extension of metatarsal microsomia on the first and fourth right foot;two patients were short metatarsal bones of both feet. The length of short metatarsal bone, length of normal metatarsal bone, distance of short metatarsal bone and healing of bone graft were observed before and 12 months after operation. American Orthopaedic Foot and Ankle Society (AOFAS) scores were used to evaluate clinical efficacy and observe complications. RESULTS: Seven patients were followed up for 12 to 24 months. All metatarsal bones were extended to satisfactory length and bone graft were healed completely. Metatarsal length and shortening distance were improved from 3.55 to 5.90 cm and 0.77 to 1.46 cm before operation to 4.31 to 6.87 cm and 0.04 to 0.57 cm at 12 months after operation. Postoperative X-ray of the affected foot at 12 months showed bone healing was achieved between metatarsal bone and bone graft in 7 patients, and the parabolic shape of the distal metatarsal bone recovered after operation. AOFAS scores improved from 40 to 70 before operation to 88 to 95 points at 12 months after operation, and 6 patients were excellent and 1 good. CONCLUSION Immediate extension of metatarsal bone for congenital brachymetatarsia, the transplanted bone grew well during the process of bone grafting healing, the occurrence of bone nonunion was reduced, the short metatarsal bone was restored to a satisfactory length, and the toe function restored well.
Humans ; Female ; Male ; Metatarsal Bones/abnormalities* ; Adult ; Adolescent ; Young Adult ; Bone Lengthening/methods* ; Foot Deformities, Congenital/surgery*

Objective: To investigate the clinicopathological features, clinical manifestations and different diagnosis of patients with complicated lymphatic anomaly. Methods: The clinical and pathologic data of four patients with complicated lymphatic anomaly diagnosed and treated in Peking Union Medical College Hospital from January 2000 to December 2021 were collected and analyzed. Results: One Gorham-Stout disease case and three generalized lymphatic anomaly cases were included in this cohort. Patients' ages ranged from 7 to 32 years. There were three males and one female. The positions of biopsy included three bone biopsy and one bronchus biopsy. Microscopically, all cases showed diffuse enlarged lymphatic channels. At the same time, osteogenesis was obvious in Gorham-Stout disease case. Radiologically, cortical loss was seen in Gorham-Stout disease, and lytic bone confined to the medullary cavity presented in generalized lymphatic anomaly. The three generalized lymphatic anomaly cases also had coagulopathy, and two had effusion. Conclusions: The histologic feature of complicated lymphatic anomaly was diffuse lymphatic malformation, and the diagnosis depends on clinical and pathologic information. The treatment and prognosis of these diseases are different, and therefore it is necessary to understand their clinical and pathologic features and make the correct diagnosis.
Male ; Humans ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Osteolysis, Essential/pathology* ; Lymphatic Abnormalities/surgery* ; Bone and Bones/pathology* ; Diagnosis, Differential ; Prognosis

PURPOSE: This paper reports an experience of rotational long scarf osteotomy for elderly patients with a hallux valgus deformity. MATERIALS AND METHODS: From January 2005 to July 2014, 37 cases in 24 patients over 70 years of age, who received rotational long scarf osteotomy for hallux valgus and were followed-up for at least 3 years, were evaluated. The bone mineral density (BMD) was checked in all cases preoperatively. The mean age at surgery was 73.9 years old. The mean follow-up period was 5.1 years. The plantar head fragment was rotated medially to correct the distal metatarsal articular angle (DMAA) and to cross the two cortices to form an “X” shape to prevent troughing. In the operating room, the DMAA was measured before and after rotation of the plantar head fragment. The hallux valgus angle, 1st intermetatarsal angle, range of motion of the first metatarsophalangeal (MTP) joint and American Orthopedic Foot and Ankle Society (AOFAS) score were measured both preoperatively and in the final follow-up. In addition, stress fractures were checked in the routine follow-ups. RESULTS: The average T-score of the preoperative BMD was −3.54. The mean DMAA measured in the operation room was corrected from 24.8° to 6.7°. The 1st intermetatarsal angle was corrected from 17.6° to 6.2° and hallux valgus angle was corrected 36.7° to 6.5°. The average range of motion of the first MTP joint was improved from 37.4° preoperatively to 64.3° in the final follow-up, and the average AOFAS scores were improved from 56.4 preoperatively to 89.2 at the final follow-up. No troughing was observed in any of the patients. In 3 cases, screw fixation failure made an additional screw necessary to obtain stability between the two fragments. No stress fractures were observed at the follow-up. CONCLUSION: The rotational long scarf osteotomy produced the effect of a DMAA correction. The rotational long scarf osteotomy might correct the DMAA and improve the clinical score in elderly hallux valgus patients.
Aged* ; Ankle ; Bone Density ; Congenital Abnormalities ; Follow-Up Studies ; Foot ; Fractures, Stress ; Hallux Valgus* ; Hallux* ; Head ; Humans ; Joints ; Metatarsal Bones ; Operating Rooms ; Orthopedics ; Osteoporosis* ; Osteotomy* ; Range of Motion, Articular

BACKGROUND: Nasal bone fracture is one of the most common facial bone fracture types, and the surgical results exert a strong influence on the facial contour and patient satisfaction. Preventing secondary deformity and restoring the original bone state are the major goals of surgeons managing nasal bone fracture patients. In this study, a treatment algorithm was established by applying the modified open reduction technique and postoperative care for several years. METHODS: This article is a retrospective chart review of 417 patients who had been received surgical treatment from 2014 to 2015. Using prepared questionnaires and visual analogue scale, several components (postoperative nasal contour; degree of pain; minor complications like dry mouth, sleep disturbance, swallowing difficulty, conversation difficulty, and headache; and degree of patient satisfaction) were evaluated. RESULTS: The average scores for the postoperative nasal contour given by three experts, and the degree of patient satisfaction, were within the “satisfied” (4) to “very satisfied” (5) range (4.5, 4.6, 4.5, and 4.2, respectively). The postoperative degree of pain was sufficiently low that the patients needed only the minimum dose of painkiller. The scores for the minor complications (dry mouth, sleep disturbance, swallowing difficulty, conversation difficulty, headache) were relatively low (36.4, 40.8, 65.2, 32.3, and 34 out of the maximum score of 100, respectively). CONCLUSION: Satisfactory results were obtained through the algorithm-oriented management of nasal bone fracture. The degree of postoperative pain and minor complications were considerably low, and the degree of satisfaction with the nasal contour was high.
Classification* ; Congenital Abnormalities ; Deglutition ; Facial Bones ; Headache ; Humans ; Mouth ; Nasal Bone* ; Pain, Postoperative ; Patient Satisfaction ; Postoperative Care ; Retrospective Studies ; Surgeons

PURPOSE: Metacarpal fracture of a ring and little finger occurs frequently. Percutaneous intramedullary fixation is a simple and effective method with a low incidence of complications. To date, Kirschner wire (K-wire) fixation has been widely used, but this has problems such as pin infection. Moreover it is difficult to start early active motion exercise. So, we replaced the K-wire with a bioresorbable implant and evaluated the results. METHODS: This study was conducted from 2014 to 2016 and involved 10 consecutive patients with 10 metacarpal neck fractures. All cases underwent percutaneous intramedullary fixation using the ActivaPin (Bioretec Ltd.) within 7 days after injury, and the average follow-up period was 13 months. At the final follow-up, all cases were assessed in terms of total active motion (TAM), bony union and angular deformity based on plain radiographs. RESULTS: The patients started active motion exercise within 1 week and regained a full range of motion after average 4 weeks. The TAM results were excellent at 250° to 270° in all cases. Regarding radiographic findings, fractures united in all cases and there were no malunion and knuckle deformity. CONCLUSION: Replacement of a K-wire with a bioresorbable pin prevented soft tissue damage and dorsal scarring. And our percutaneous intramedullary bioresorbable pin fixation technique resulted in early recovery of range of motion and correction of deformity. The patients regained range of motion and returned to daily life early.
Absorbable Implants ; Cicatrix ; Clinical Study* ; Congenital Abnormalities ; Fingers ; Follow-Up Studies ; Fracture Fixation ; Fractures, Bone* ; Humans ; Incidence ; Metacarpal Bones ; Methods ; Neck ; Range of Motion, Articular

Melorheostosis is a very rare sclerosing bone disease with pain, joint stiffness, and limitation of motion. Its characteristic on radiography is a dense bone formation along the side of the bone, resembling the flow of candle grease. Various conservative or surgical methods have been practiced in treating pain and deformities. This is a report on the successful treatment result of six cases of melotheostosis, involving the metatarsal, metacarpal, clavicle, and tibia, which weretreated by conservative and operative treatment methods.
Arthralgia ; Bone Diseases ; Clavicle ; Congenital Abnormalities ; Melorheostosis* ; Metatarsal Bones ; Osteogenesis ; Radiography ; Tibia

Solid freeform techniques are revolutionising technology with great potential to fabricate highly organized biodegradable scaffolds for damaged tissues and organs. Scaffolds fabricated via Solid freeform (SFF) techniques have more pronounced effect in bone tissue engineering. SFF techniques produce various types of scaffolds from different biomaterials with specific pore size, geometries, orientation, interconnectivity and anatomical shapes. Scaffolds needs to be designed from such biomaterials which can attach directly to natural tissues and mimic its properties, so ideally mechanical properties of scaffolds should be same as that of regenerating tissues for best results. The scaffolds designed without optimized mechanical properties would lead to the reduced nutrition diffusion within tissue engineered constructs (TECs) causing tissue necrosis. These scaffolds are mainly processed from ceramics and polymers like calcium phosphate, polydioxane, €-polycaprolactone, polylactic and polyglycolic acids etc. While, hydrogel scaffolds provide bridge for encapsulated cells and tissues to integrate with natural ECM. Likewise, 2D images from radiography were not sufficient for the prediction of the brain structure, cranial nerves, vessel and architecture of base of the skull and bones, which became possible using the 3D prototyping technologies. Any misrepresentation can lead to fatal outcomes. Biomodelling from these techniques for spinal surgery and preoperative planning are making its way toward successful treatment of several spinal deformities and spinal tumor. In this review we explored laser based and printing SFF techniques following its methodologies, principles and most recent areas of application with its achievements and possible challenges faced during its applications.
Biocompatible Materials ; Bone and Bones* ; Brain ; Calcium ; Ceramics ; Congenital Abnormalities ; Cranial Nerves ; Diffusion ; Fatal Outcome ; Hydrogel ; Necrosis ; Polyglycolic Acid ; Polymers ; Printing, Three-Dimensional ; Radiography ; Skull

Stafne bone cavity is a rare mandibular defect that was first reported by Edward C. Stafne in 1942. It commonly presents with a well-demarcated, asymptomatic, unilateral radiolucency that indicates lingual invagination of the cortical bone. A 52-year-old female patient who with nasal bone fracture, visited the hospital. During facial bone computed tomography (CT) for facial area evaluation, a well-shaped cystic lesion was accidentally detected on the right side of the mandible. Compared to the left side, no swelling or deformity was observed in the right side of the oral lesion, and no signs of deformity caused by mucosal inflammation. 3D CT scans, and mandible series x-rays were performed, which showed a well-ossified radiolucent oval lesion. Axial CT image revealed a cortical defect containing soft tissue lesion, which has similar density as the submandibular gland on the lingual surface of the mandible. The fact that Stafne cavity is completely surrounded by the bone is the evidence to support the hypothesis that embryonic salivary gland is entrapped by the bone. In most cases, Stafne bone cavity does not require surgical treatment. We believe that the mechanical pressure from the salivary gland could have caused the defect.
Bone Cysts ; Congenital Abnormalities ; Facial Bones ; Female ; Humans ; Inflammation ; Mandible* ; Middle Aged ; Nasal Bone ; Salivary Glands ; Submandibular Gland ; Tomography, X-Ray Computed