OBJECTIVE: To explore the corrective strategies and effectiveness of osteotomy surgery for severe lower limb deformities in hypophosphatemic rickets. METHODS: A retrospective analysis was conducted on 29 patients with severe lower limb deformities of hypophosphatemic rickets who underwent surgical treatment between February 2012 and August 2024. There were 9 males and 20 females. The age ranged from 13 to 53 years, with an average of 24.6 years. All patients were deformities of both lower limbs, presenting as 24 cases of O-shaped legs, 2 cases of wind-blown deformities, and 3 cases of X-shaped legs. Based on the full-length films of both lower limbs in the standing position before operation, the osteotomy planes of the femur, tibia, and fibula were designed. Among them, if both the same-sided thigh and leg were deformed, staged surgeries of both lower limbs were selected. If only the thigh or leg were deformed, simultaneous surgeries of both lower limbs were selected. The femur deformity was corrected immediately after osteotomy at the deformed plane; the osteotomy fragment was temporarily controlled with an external fixator, which was removed after perform internal fixation with a steel plate. After fibular osteotomy, the Ilizarov frame or Taylor frame was installed on the tibia and fibula. The threaded rods were removed and then tibial osteotomy was performed on the deformed plane. Patients using the Taylor frame did not undergo deformity correction during operation. The external fixators were adjusted starting 7 days after operation to correct the varus, valgus, and rotational deformities of the lower limb. Patients using the Ilizarov frame corrected the rotational deformity of the tibia during operation. The external fixator was adjusted starting 7 days after operation to correct the varus and valgus deformities of the lower limb. During the treatment period, the patient could walk with partial weight-bearing on the operated limb with crutches. The external fixator was removed after the bone healed. Before operation and at last follow-up, the medial proximal tibial angle (MPTA), lateral distal tibial angle (LDTA), posterior proximal tibial angle (PPTA), anterior distal tibial angle (ADTA), anatomic lateral distal femoral angle (aLDFA), posterior distal femoral angle (PDFA), and mechanical axis deviation (MAD), lower limb rotation, limb length discrepancy (LLD) were measured. The self-made scoring criteria were adopted to evaluate the degree of lower limb deformity of the patients. RESULTS: All operations were successfully completed, and no complications such as nerve or vascular injury occurred. The adjustment time of the external fixator of the lower limb after operation was 28-46 days, with an average of 37.4 days. The wearing time of the external fixator ranged from 134 to 398 days, with an average of 181.5 days. Mild pin tract infections occurred in 2 limbs. The osteofascial compartment syndrome occurred in 1 limb after operation. No complications related to orthopedic adjustment of the external fixator occurred in other patients. All patients were followed up 6-56 months, with an average of 28.2 months. At last follow-up, full-length films of both lower limbs in the standing position showed that the coronal mechanical axes of the lower limbs of all patients returned to the normal. At last follow-up, MPTA, LDTA, PPTA, aLDFA, PDFA, MAD, lower limb rotation, LLD, and the score of lower limb deformity significantly improved when compared with those before operation ( P<0.05). There was no significant difference in ADTA between pre- and post-operation ( P>0.05). The degree of lower limb deformity were rated as moderate in 2 cases and poor in 27 cases before operation and as excellent in 7 cases, good in 18 cases, and moderate in 4 cases at last follow-up, with an excellent and good rate of 86.2%. CONCLUSION For severe lower limb deformities in hypophosphatemic rickets, immediate correction of deformities with femoral osteotomy and internal plate fixation, as well as gradually correction of deformities with tibiofibular osteotomy and circular external fixation (Ilizarov frame or Taylor frame), have satisfactory therapeutic effects.
Humans ; Male ; Osteotomy/instrumentation* ; Female ; Adult ; Retrospective Studies ; Tibia/abnormalities* ; Adolescent ; Femur/abnormalities* ; Middle Aged ; Fibula/surgery* ; Rickets, Hypophosphatemic/complications* ; Young Adult ; Treatment Outcome ; External Fixators ; Bone Plates ; Lower Extremity Deformities, Congenital/etiology*

OBJECTIVE: To evaluate the effectiveness of correcting post-traumatic equinovarus deformity using Ilizarov external fixation technique combined with limited osteotomy. METHODS: A retrospective analysis was conducted on clinical data from 29 patients with post-traumatic equinovarus deformity treated between July 2018 and March 2023. The cohort included 18 males and 11 females, with ages ranging from 15 to 57 years (mean, 24.3 years). All patients exhibited ankylosed ankle joints with equinovarus deformity. During surgery, external fixators were installed according to Ilizarov pinning principles, and minimally invasive osteotomy was performed at the ankle joint. Concurrently, soft tissue release was achieved via minimally invasive Achilles tendon lengthening. Postoperatively, multiplanar deformity correction was accomplished through gradual adjustment of the external fixator. The fixator was removed after bony union at the osteotomy site, followed by bracing. The surgical duration, intraoperative blood loss, fixator wear time, and complications were recorded. Postoperative outcomes included assessment of deformity correction and bony union at the osteotomy site. Functional improvement and pain relief were evaluated using pre- and post-operative scores from the American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot score and visual analogue scale (VAS) score. RESULTS: All 29 patients were followed up 12-24 months (mean, 18 months). The mean surgical duration was 85.6 minutes, with a mean intraoperative blood loss of 110 mL. Full deformity correction was achieved within 26-80 days (mean, 40.7 days) through progressive fixator adjustments. At correction completion, all ankles restored to a neutral or 5°-10° dorsiflexed position with plantigrade foot function. Superficial pin tract infections occurred in 3 patients (10.3%), resolved with local wound care, enhanced nursing, and oral antibiotics. No deep or systemic infections was observed. One patient sustained a calcaneal half-pin fracture due to a fall during fixator wear, but no bone fragment displacement occurred. No vascular or neurological complication was reported. Complete bony union was achieved at all osteotomy sites without nonunion. At last follow-up, the AOFAS ankle-hindfoot score improved from preoperative 42.7±8.7 to postoperative 65.7±9.3, and the VAS score decreased from preoperative 4.5±1.3 to postoperative 2.5±1.1, with significant differences ( P<0.05). Functional outcomes were rated as excellent in 14 cases, good in 13 cases, fair in 1 case, and poor in 1 case, with an excellent and good rate of 93.1%. CONCLUSION The progressive correction strategy combining Ilizarov external fixation technique with limited foot osteotomy effectively corrects post-traumatic equinovarus deformity while preserving soft tissue integrity. This method is associated with minimal, largely controllable complications and achieves alignment stability and fusion outcomes comparable to traditional open surgery, making it an effective treatment for complex foot and ankle deformities.
Humans ; Male ; Female ; Osteotomy/methods* ; Adult ; Retrospective Studies ; Ilizarov Technique ; Middle Aged ; Adolescent ; External Fixators ; Young Adult ; Treatment Outcome ; Ankle Joint/surgery* ; Clubfoot/etiology* ; Minimally Invasive Surgical Procedures/methods*

OBJECTIVE: To summarize the methods of ankle hinge position design in the correction of clubfoot deformity by Ilizarov method, and to explore its application value in the prevention of ankle dislocation. METHODS: A retrospective study was conducted including 28 patients with rigid clubfoot deformity (34 feet) who met the selection criteria and admitted between September 2021 and December 2024. There were 19 males and 9 females with an average age of 31.8 years (range, 19-47 years). According to Dimeglio classification, there were 21 feet of degree Ⅲ and 13 feet of degree Ⅳ. The causes were traumatic sequelae in 9 cases, congenital foot deformity in 15 cases, spina bifida sequelae in 1 case, peripheral neuropathy in 1 case, and cerebral palsy sequelae in 2 cases. The malformation lasted from 6 to 46 years, with an average of 29.3 years. All patients were treated with Ilizarov circular external fixator, and the hinge position of ankle joint was planned according to the standard lateral X-ray film of foot and ankle and the principle of Ilizarov limb deformity correction center of rotation angulation (CORA) before operation. The 2008 International Clubfoot Study Group (ICFSG) scoring system was used to evaluate the efficacy. RESULTS: The deformity of rigid clubfoot was completely corrected in all patients, and the patients could walk with plantar weight-bearing, and the ankle weight-bearing walking significantly improved when compared with that before operation. There was no complication such as ankle dislocation, talus impact or extrusion, local skin necrosis, needle tract infection, or numbness of extremities during the correction process. All patients were followed up 5-39 months, with an average of 18.1 months. At last follow-up, according to the ICFSG scoring system, 23 feet were excellent, 10 feet were good, and 1 foot was fair, and the excellent and good rate was 97%. CONCLUSION Designing the position of the ankle hinge according to the principle of CORA can effectively avoid ankle dislocation, talus impingement, tibiotalar joint extrusion, and other ankle adverse events in the process of correcting clubfoot deformity, which has good application value in clinical practice.
Humans ; Male ; Female ; Clubfoot/diagnostic imaging* ; Ilizarov Technique/instrumentation* ; Adult ; Retrospective Studies ; External Fixators ; Ankle Joint/diagnostic imaging* ; Middle Aged ; Joint Dislocations/prevention & control* ; Treatment Outcome ; Young Adult

OBJECTIVE: To explore the biomechanical characteristics and clinical application effects of three-dimensional (3D) printed osteotomy guide plate combined with Ilizarov technique in the treatment of rigid clubfoot. METHODS: A retrospective analysis was performed on the clinical data of 11 patients with rigid clubfoot who met the inclusion criteria and were admitted between January 2019 and December 2024. There were 6 males and 5 females, aged 21-60 years with an average of 43.2 years. Among them, 5 cases were untreated congenital rigid clubfoot, 4 cases were recurrent rigid clubfoot after previous treatment, and 2 cases were rigid clubfoot due to disease sequelae. All 11 patients first received slow distraction using Ilizarov technique combined with circular external fixator until the force lines of the foot and ankle joint were basically normal. Then, 1 male patient aged 24 years was selected, and CT scanning was used to obtain imaging data of the ankle joint and foot. A 3D finite element model was established and validated using the plantar stress distribution nephogram of the patient. After validation, the biomechanical changes of the tibiotalar joint under the same load were simulated after triple arthrodesis and fixation. The optimal correction angle of the hindfoot was determined to fabricate 3D-printed osteotomy guide plates, and all 11 patients underwent triple arthrodesis using these guide plates. The functional recovery was evaluated by comparing the American Orthopaedic Foot and Ankle Society (AOFAS) score, International Clubfoot Study Group (ICFSG) score, and 36-Item Short Form Survey (SF-36) score before and after operation. RESULTS: Finite element analysis showed that the maximum peak von Mises stress of the tibiotalar joint was at hindfoot varus 3° and the minimum at valgus 6°; the maximum peak von Mises stress of the 3 naviculocuneiform joints under various conditions appeared at lateral naviculocuneiform joint before operation, and the minimum appeared at lateral naviculocuneiform joint at neutral position 0°; the maximum peak von Mises stress of the 5 tarsometatarsal joints under various conditions appeared at the 2nd tarsometatarsal joint at hindfoot neutral position 0°, and the minimum appeared at the 1st tarsometatarsal joint at valgus 6°. Clinical application results showed that the characteristics of clubfoot deformity observed during operation were consistent with the preoperative 3D reconstruction model. All 11 patients were followed up 8-24 months with an average of 13.1 months. One patient had postoperative incision exudation, which healed after dressing change; the remaining patients had good incision healing. All patients achieved good healing of the osteotomy segments, with a healing time of 3-6 months and an average of 4.1 months. At last follow-up, the AOFAS score, SF-36 score, and ICFSG score significantly improved when compared with those before operation ( P<0.05). CONCLUSION The 3D-printed osteotomy guide plate combined with Ilizarov technique has favorable biomechanical advantages in the treatment of rigid clubfoot, with significant clinical application effects. It can effectively improve the foot function of patients and achieve precise and personalized treatment.
Humans ; Clubfoot/diagnostic imaging* ; Printing, Three-Dimensional ; Male ; Osteotomy/instrumentation* ; Female ; Ilizarov Technique/instrumentation* ; Adult ; Retrospective Studies ; Biomechanical Phenomena ; Middle Aged ; Bone Plates ; Young Adult ; Finite Element Analysis ; Treatment Outcome ; Ankle Joint/physiopathology* ; Tomography, X-Ray Computed ; External Fixators

OBJECTIVE: To investigate the effectiveness of applying a standardized rehabilitation process in correction of adult clubfoot with the Ilizarov technique. METHODS: Thirty-eight adult patients who underwent orthopedic treatment with Ilizarov technique for clubfoot between August 2022 and December 2024 were retrospectively analyzed. The patients were divided into a study group and a control group with 19 cases in each group according to the different rehabilitation management processes and methods. The differences in baseline data such as gender, age, side, and preoperative Holden walking function grading between the two groups were not significant ( P>0.05). In both groups, most of the clubfoot deformities were surgically corrected first, and the residual deformities were corrected by dynamic slow retraction with Ilizarov ring-type external fixation frame. The study group adopted standardized rehabilitation process management mode, including preoperative lower limb muscle strength training, postoperative pain and swelling management, weight-bearing management, gait and lower limb stability training. The control group adopted the conventional postoperative rehabilitation management mode. The occurrence of complications was recorded, including pin tract infection, ankle stiffness and pain, and deformity recurrence. Holden walking function grading was used to evaluate the walking ability of the patients. Clinical efficacy was evaluated by the QIN Sihe Deformity Correction Disability Repair and Functional Reconstruction Postoperative Efficacy Evaluation Scale. Patient satisfaction was evaluated by Likert score. RESULTS: Patients in both groups successfully completed surgery and rehabilitation and were followed up. The follow-up time ranged from 8 to 29 months, with a mean of 18.5 months. Among them, the follow-up time was (18.8±5.5) months in the study group and (18.2±5.7) months in the control group, and the difference between groups was not significant ( t=0.316, P=0.754). The postoperative incidences of pin tract infection, ankle stiffness and pain, and deformity recurrence in the study group were 10.53%, 5.26%, and 5.26%, respectively, and in the control group were 21.05%, 36.84%, and 15.79%, respectively. And the difference between groups in the incidence of ankle stiffness and pain was significant ( P=0.042). At last follow-up, both groups showed an improvement in Holden walking function grading compared to preoperative levels ( P<0.05), and the grading of the study group was significantly higher than that of the control group ( P=0.006). According to the QIN Sihe Deformity Correction Disability Repair and Functional Reconstruction Postoperative Efficacy Evaluation Scale, the grade difference between groups was not significant ( P=0.089), and the excellent and good rates of clinical efficacy in study group and control group were 89.47% (17/19) and 73.68% (14/19), respectively. Patient satisfaction in study group was significantly better than that in control group ( P=0.036). CONCLUSION Standardized rehabilitation process can effectively promote the postoperative functional recovery of adult clubfoot treated with Ilizarov technique, reduce the risk of complications and improve effectiveness.
Humans ; Ilizarov Technique/rehabilitation* ; Clubfoot/rehabilitation* ; Male ; Female ; Retrospective Studies ; Adult ; Treatment Outcome ; Young Adult ; Weight-Bearing ; Adolescent

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*

Y chromosome microdeletions are an important cause of male infertility. At present, research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c (AZFa/b/c) gene, and few studies have reported the impact of unit point deletion in the AZF band on fertility. This study analyzed the effect of sperm quality after sY1192 loss in 116 patients. The sY1192-independent deletion accounted for 41.4% (48/116). Eight patterns were found in the deletions associated with sY1192. The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions (52.1% vs 50.0%). The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed, but other gene loci were lost (52.1% vs 32.0%). The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus. After multiple intracytoplasmic sperm injection (ICSI) attempts, the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions, but the fertilization and cleavage rates were higher. We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c, dominated by the independent deletion of sY1192. After ICSI, the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types, but there was no significant difference in pregnancy outcomes.
Humans ; Female ; Pregnancy ; Male ; Chromosomes, Human, Y/genetics* ; Adult ; Chromosome Deletion ; Pregnancy Outcome/genetics* ; Infertility, Male/genetics* ; Spermatozoa/physiology* ; Semen Analysis ; Sex Chromosome Disorders of Sex Development/genetics* ; Sperm Injections, Intracytoplasmic ; Azoospermia/genetics* ; Sex Chromosome Aberrations

The aim of this study was to investigate the trend in testicular volume changes after orchiopexy in children with cryptorchidism. The clinical data of 854 children with cryptorchidism who underwent orchiopexy between January 2013 and December 2016 in Shenzhen Children's Hospital (Shenzhen, China) were retrospectively analyzed. The mean (standard deviation) age of the patients was 2.8 (2.5) years, and the duration of follow-up ranged from 1 year to 5 years. Ultrasonography was conducted preoperatively and postoperatively. The variables analyzed included age at the time of surgery, type of surgical procedure, laterality, preoperative testicular position, preoperative and postoperative testicular volumes, and the testicular volume ratio of them. The average testicular volumes preoperatively and at 1 year, 2 years, 3 years, and 5 years postoperatively were 0.27 ml, 0.38 ml, 0.53 ml, 0.87 ml, and 1.00 ml, respectively ( P < 0.001). The corresponding testicular volume ratios were 0.67, 0.76, 0.80, 0.83, and 0.84 ( P < 0.001). The mean volume of the undescended testes was significantly smaller than the mean normative value ( P < 0.001, lower than the 10 th percentile). The postoperative testicular volumes in children with cryptorchidism were generally lower than those in healthy boys but were still greater than the 10 th percentile and exhibited an increasing trend. The older the child is at the time of surgery, the larger the gap in volume between the affected and normal testes. Although testicular volume tends to gradually increase after orchiopexy for cryptorchidism, it could not normalizes. Earlier surgery results in affected testicular volumes closer to those of healthy boys.
Humans ; Male ; Cryptorchidism/diagnostic imaging* ; Orchiopexy ; Child, Preschool ; Testis/surgery* ; Retrospective Studies ; Organ Size ; Ultrasonography ; Infant ; Child ; Postoperative Period ; Follow-Up Studies

OBJECTIVES: To study the incidence and disease burden of congenital birth defects in children under five in China from 1990 to 2021 and to predict the incidence of congenital birth defects in this population from 2022 to 2036, providing a reference for the prevention of congenital birth defects in children. METHODS: Using the Global Burden of Disease Study 2021 (GBD 2021) database, the incidence and disability-adjusted life years (DALY) were employed to describe the disease burden. The Joinpoint regression model was used to analyze the trends in incidence and DALY rates of congenital birth defects in children under five. A grey prediction model GM(1,1) was applied to fit the trend of incidence rates of congenital birth defects in this age group and to predict the incidence from 2022 to 2036. RESULTS: In 2021, the incidence rate of congenital birth defects among children under five in China was 737.28 per 100 000. Among these, congenital musculoskeletal and limb deformities had the highest incidence rate at 307.15 per 100 000, followed by congenital heart defects (223.53 per 100 000), congenital urinary and genital tract malformations (74.99 per 100 000), and congenital gastrointestinal malformations (62.61 per 100 000). From 1990 to 2021, the incidence rate and DALY rate of congenital birth defects in children under five in China decreased at an average annual rate of 1.73% and 5.42%, respectively. The prediction analysis indicated a decreasing trend in the incidence of congenital birth defects among children under five in China from 2022 to 2036, with the incidence rate dropping from 892.36 per 100 000 in 2022 to 783.35 per 100 000 in 2036. CONCLUSIONS The incidence and disease burden of congenital birth defects in children under five in China showed a significant declining trend from 1990 to 2021. It is predicted that this incidence will continue to decrease until 2036.
Humans ; Congenital Abnormalities/epidemiology* ; China/epidemiology* ; Incidence ; Infant ; Infant, Newborn ; Child, Preschool ; Female ; Male ; Forecasting ; Disability-Adjusted Life Years

Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the SMARCB1 gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.
Child, Preschool ; Humans ; Male ; Abnormalities, Multiple/genetics* ; Chromosomal Proteins, Non-Histone/genetics* ; Ear/abnormalities* ; Face/abnormalities* ; Hand Deformities, Congenital/genetics* ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Mutation ; Neck/abnormalities*