Congenital deformities

先天性畸形
  • 文章类型: Journal Article
    一只4个月大的雄性ShihTzu犬(病例1)和一只11个月大的雌性DevonRex猫(病例2)被转诊到专科兽医医院,以评估右胸la行和前肢远端的生长异常。
    在两种情况下的患肢中都注意到非负重跛行和活动范围减小。案例1有一个平庸的立场,第一个和第二个手指之间的裂隙间隔向上延伸到前臂的远端三分之一。触诊时没有疼痛,患肢短于对侧。射线照相检查显示掌骨I和II之间的裂隙分离,和腕骨融合(I,II,III),桡骨远端自由终止并连接到第一掌骨。病例2掌骨内侧有一个小裂痕III。肢体始终被绑架,并有明显的腕内翻。肢体从未用于承重。影像学检查显示掌骨II发育不全,掌骨I和III分离。桡骨和尺骨分离,桡骨头在肘部没有正常铰接,导致明显的肘部不一致。
    在两种情况下都是Ectrodactyly。
    在两种情况下都进行了桡骨截肢,然后进行了尺腕关节固定术。术后1年(病例1)和10周(病例2)的随访评价显示关节融合术令人满意,业主满意度,和良好的临床结果。
    Ectrodactyly是一种罕见的先天性前肢畸形,具有异质性,需要一个个性化的治疗计划。这是在小动物中报道的首例病例,这些小动物被成功地用尺骨关节固定术治疗。因此,该病例系列提供了支持这种异质先天性畸形的治疗选择的证据。
    UNASSIGNED: A 4-month-old male Shih Tzu dog (Case 1) and an 11-month-old female Devon Rex cat (Case 2) were referred to specialist veterinary hospitals for evaluation of right thoracic lameness and growth abnormality in the distal aspect of the forelimb.
    UNASSIGNED: Non-weight-bearing lameness and decreased range of motion were noted in the affected limbs of both cases. Case 1 had a plantigrade stance, and a cleft separation between the first and second digits extending upwards to the distal third of the antebrachium. There was no pain on palpation, and the affected limb was shorter than the contralateral. Radiographic examination revealed cleft separation between metacarpal bones I and II, and carpal bone fusion (I, II, III), and the distal radius ended freely and was attached to the first metacarpal bone.Case 2 had a small cleft medial to metacarpal III. The limb was consistently held in abduction and had marked carpal varus. The limb had never been used for weight bearing. Radiographic examination showed agenesis of metacarpal bone II and separation of metacarpals I and III. The radius and ulna were separated and the radial head did not articulate normally at the elbow, leading to marked elbow incongruity.
    UNASSIGNED: Ectrodactyly in both cases.
    UNASSIGNED: Amputation of the radius followed by ulnocarpal arthrodesis were performed in both cases. Follow-up evaluations up to 1 year (Case 1) and 10 weeks (Case 2) after surgery indicated satisfactory arthrodesis fusion, owner satisfaction, and a good clinical outcome.
    UNASSIGNED: Ectrodactyly is a rare congenital deformity of the forelimb with a heterogeneous character, requiring an individualised treatment plan. These are the first cases reported in the literature of ectrodactyly in small animals that were treated successfully with ulnocarpal arthrodesis. This case series therefore provides evidence in support of this treatment option for this heterogeneous congenital deformity.
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  • 文章类型: Journal Article
    目的:评估3D虚拟计划正颌手术在有和无裂隙患者中的手术准确性。
    方法:这项回顾性队列研究包括接受双颌骨手术的III类错牙合的裂隙和非裂隙患者。在手术前和手术后立即进行CBCT扫描。使用CBCT和数字化牙列数据进行3D虚拟手术计划(VSP)。所有正颌手术均由同一外科医生使用咬合间夹板进行。主要结果变量是手术准确性,定义为计划和手术实现的上颌运动之间的差异,以六个自由度量化。校正计划手术上颌运动幅度的差异后,使用协方差分析来测试手术准确性的组间差异。
    结果:纳入了28例裂隙和33例非裂隙患者,平均年龄为18.5岁和25.4岁,分别为(P=0.01)。两组之间无明显的性别差异(P=0.10)。调整手术动作的微小差异后,裂隙和非裂隙患者的手术准确性无显著差异.
    结论:本研究表明,使用VSP和咬合间夹板可以在裂隙和非裂隙患者中实现上颌骨运动的高手术准确性。
    结论:使用3DVSP可以进行正颌裂病例,以获得令人满意的手术准确性。
    OBJECTIVE: To assess the surgical accuracy of 3D virtually planned orthognathic surgery among patients with and without cleft.
    METHODS: This retrospective cohort study included cleft and non-cleft patients with class III malocclusion who underwent bimaxillary surgery. CBCT scans were acquired before and immediately after surgery. 3D virtual surgical planning (VSP) was performed using CBCT and digitalized dentition data. All orthognathic surgeries were performed by the same surgeons using interocclusal splints. The primary outcome variable was surgical accuracy, defined as the difference between the planned and surgically achieved maxillary movements, quantified in six degrees of freedom. Analysis of covariance was used to test for intergroup differences in surgical accuracy after correcting for differences in the magnitude of planned surgical maxillary movements.
    RESULTS: Twenty-eight cleft and 33 non-cleft patients were enrolled, with mean ages of 18.5 and 25.4 years, respectively (P=0.01). No significant gender difference was present between the groups (P=0.10). After adjustment for small differences in surgical movements, no significant differences in surgical accuracy were observed between cleft and non-cleft patients.
    CONCLUSIONS: The present study demonstrates that high surgical accuracy in maxillary movements can be achieved in both cleft and non-cleft patients using VSP and interocclusal splints.
    CONCLUSIONS: Orthognathic cases with cleft can be performed with 3D VSP to obtain a satisfactory surgical accuracy.
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  • 文章类型: Case Reports
    背景:甲状舌管囊肿(TDC)是常见的先天性畸形。其中大多数是由甲状腺舌管形成的囊肿,在胚胎早期不会消失和退化。TDC单独存在,很少因其他先天性胚胎畸形而复杂化。只有少数报告的TDC伴分支裂囊肿,甲状腺癌,甲状腺血肿,表皮样囊肿也有报道。因此,我们报告了一名TDC和甲状旁腺囊肿(PC)的患者,一种从未报道过的罕见疾病。
    方法:一名47岁的妇女于2021年4月出现颈部肿瘤,她在5天之前就注意到了。我们完善了相关的检查,比如超声波和计算机断层扫描,切除了肿瘤.手术治疗后,病理显示为颈状舌管囊肿和左叶甲状旁腺囊肿。患者随访1年,无明显复发。
    结论:我们报告了一名同时患有TDC和PC的患者,以探索两种先天性异常之间的相关性。
    BACKGROUND: Thyroglossal duct cysts (TDC) are common congenital deformities. Most of them are cysts formed by the thyroglossal ducts that do not disappear and degenerate in the early embryonic stage. TDC exists alone and is rarely complicated by other congenital embryonic malformations. Only a few reports of TDC with branchial cleft cysts, thyroid cancer, thyroid hematoma, and epidermoid cysts have been reported. Therefore, we report a patient with TDC and parathyroid cyst (PC), a rare disease that has never been reported.
    METHODS: A 47-year-old woman presented to clinic in April 2021 with a neck tumor which she had noticed 5 d earlier. We perfected the relevant examinations, such as ultrasound and computed tomography, and resected the tumor. After surgical treatment, the pathology revealed a cervical thyroglossal duct cyst and a left lobe parathyroid cyst. The patient was followed up for 1 year without significant recurrence.
    CONCLUSIONS: We report a patient with a simultaneous TDC and a PC to explore the correlation between the two congenital anomalies.
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  • 文章类型: Journal Article
    In the past, open osteotomy was always performed through a dorsal approach in the surgical treatment of brachymetatarsia, which created scar formation on the dorsal skin, subsequently resulting in dissatisfaction with cosmetic results. In this study, we provided a plantar approach to avoid forming scars on the dorsal side. A retrospective review was conducted in nine patients (13 feet) with brachymetatarsia treated with an open osteotomy and gradual bone lengthening through a plantar approach. Visual analogue scale (VAS) was used to evaluate the satisfaction of foot appearance, and we designed a questionnaire called appearance index (AI) to assess the influence of foot appearance on quality of life after surgery. The complications were also recorded during the follow-up. The patients were followed up for 34.8 ± 23.7 months. All cases were healed with a time of 64.4 ± 7.1 days and a healing index of 44.1 ± 7.8 d/cm. Satisfaction VAS for foot appearance improved from a preoperative score of 1.7 ± 1.3 points to a postoperative score of 9.3 ± 0.5 points. The AI improved from a preoperative score of 9.2 ± 0.8 points to a postoperative score of 0.6 ± 0.7 points. Complications were observed in three feet (23.1%), but none was related to the plantar approach. In conclusion, the plantar approach for metatarsal osteotomy and pins fixation was a safe and efficient technique with a satisfactory cosmetic result for the patients. No complications related to the novel approach, such as neurovascular injury, were reported.
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  • 文章类型: Case Reports
    在巴拉圭的三个地点观察到9个显示面部畸形的Alouattacaraya和Sapajuscay。六个有唇裂(有或没有腭裂),三个下唇畸形。这是Alouatta属中唇裂和/或腭裂的第一个记录。
    Nine individual Alouatta caraya and Sapajus cay displaying facial malformations were observed across three sites in Paraguay. Six had cleft lip (with or without cleft palate), and three had malformations of the lower lip. This is the first record of cleft lip and/or palate in the genus Alouatta.
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  • 文章类型: Case Reports
    BACKGROUND: Bilateral congenital absence of femur is a rare congenital anomaly.
    METHODS: We report a 2-year-old Indonesian female child, the third of the birth of diabetic mother. There is no congenital abnormality among her siblings. She has a normal mentality and normal upper limbs. She was brought to us with a complaint of the short lower limb. Examination revealed short lower limb with an absence of thigh, a full range of motion of the hip and ankle and left club foot. A detailed history was obtained and she was radiologically examined. The X-ray of the pelvis and lower limb shows shallow of the acetabulum, absence of bilateral femur, and uncommon form of tibia fibula. She was diagnosed with bilateral congenital absence of femur.
    CONCLUSIONS: We report this case because it does not meet the existing classification criteria for congenital femur deficiency. Proper evaluation and management of this case can help the patient and the parents to accept her condition and be able to live a good social and economically productive life.
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  • 文章类型: Journal Article
    目的:先前对马蹄足的超声研究主要集中在生命的第一年。这项研究的目的是通过添加新的变量来改善对距骨-舟骨和跟骨-长方体关节的评估,评估正常脚和马蹄内翻足的超声测量的可重复性,并确定4岁以下正常脚的值。
    方法:对照组105名儿童,分为10个年龄组,对46名儿童的71只马蹄进行了检查。引入了四个新变量:内踝-距骨头-舟骨距离,距骨与舟骨距离内侧边界的内侧切线,距骨的纵轴与距骨头部中心到舟骨内角的线之间的夹角,跟骨和长方体的横向边界之间的角度。通过比较内收和外展中与脚的测量结果来评估距骨-舟骨和跟骨-长方体关节的活动性。
    结果:可以以公平到非常好的观察者内部和观察者之间的可重复性评估变量(组内相关系数分别>0.8和≥0.6),除了少数例外。与对照组相比,马蹄足的滑体-舟骨和跟骨-长方体关节的运动较少。
    结论:正常脚和马蹄足的形态,以及距骨-舟骨和跟骨-长方体关节的活动性,可以通过超声评估,从出生到四岁具有相当到非常好的可靠性。
    方法:III.
    OBJECTIVE: Previous ultrasound studies of clubfeet have mainly focused on the first year of life. The purpose of this study was to improve the evaluation of the talo-navicular and calcaneo-cuboid joints by adding new variables, evaluating the repeatability of ultrasound measurements for normal feet and clubfeet and establishing values for normal feet up to four years of age.
    METHODS: A control group of 105 children divided into ten age groups, and 71 clubfeet in 46 children were examined. Four new variables were introduced: medial malleolus-Talar head-Navicular distance, medial tangent of the talus to the medial border of the navicular distance, the angle between the longitudinal axis of the talus and a line from the centre of the talar head to the medial corner of the navicular, the angle between the lateral borders of the calcaneus and the cuboid. The mobility in the talo-navicular and the calcaneo-cuboid joints was assessed by comparing measurements with the foot in adduction and abduction.
    RESULTS: The variables could be assessed with fair to very good intra- and inter-observer repeatability (intraclass correlation coefficient > 0.8 and ≥ 0.6, respectively), with a few exceptions. There was less movement in talo-navicular and calcaneo-cuboid joints in clubfeet than in controls.
    CONCLUSIONS: Morphology of normal feet and clubfeet, as well as mobility in the talo-navicular and calcaneo-cuboid joints, can be assessed by ultrasound with a fair to very good reliability from birth to the age of four years.
    METHODS: III.
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  • 文章类型: Journal Article
    目的:短肢meta症被定义为meta骨的病理性缩短,这可能会导致美容问题和前脚疼痛。主要的手术治疗方案有:外延截骨,骨移植物的插入,和老茧分心。通常,从髂骨移植骨用于插入截骨术。文献中尚未描述从腓骨提取移植物的操作技术。方法:回顾性分析5例8足远足性转移患者的临床资料。最短随访期为2年。通过背侧V/Y皮肤切口,对跖骨进行中央截骨术。从前腓骨获得移植物。将移植物插入并通过锁定板固定。进行额外的软组织手术。结果:我们在所有病例中均有骨性巩固。平均延伸为9.01mm(5.49至12.54mm)。这对应于整个meta骨的平均20.3%的扩展。获得了高患者满意度以及关于美容结果的高满意度。术后无并发症发生。就足底屈曲而言,the骨-指关节IV的运动范围在术前减少了20%。术后所有患者都可以站起来。一名患者在体育活动后报告轻度症状。结论:由于其解剖结构,移植物适应meta骨IV。正如我们的研究显示,从腓骨远端收获不会导致功能限制。在伤口和骨骼愈合以及疼痛症状方面,这种方法应被视为标准髂骨移植物的替代方法。
    Objective: Brachymetatarsia is defined as the pathological shortening of a metatarsal bone, which can cause cosmetic problems and pain in the forefoot. The main surgical treatment options are: extension osteotomy, interposition of a bone graft, and callus distraction. Usually, a bone graft from the iliac crest is used for the interposition osteotomy. The operative technique of graft extraction from the fibula has not been described in the literature yet. Methods: Eight feet with brachymetatarsia in 5 patients were evaluated retrospectively. The minimum follow-up period was 2 years. Via a dorsal V/Y skin incision, a central osteotomy on the metatarsal bone was done. A graft was obtained from the anterior fibula. The graft was inserted and fixed by a locking plate. Additional soft tissue procedures were done. Results: We had bony consolidation in all cases. The mean extension was 9.01 mm (5.49 to 12.54 mm). This corresponded to a mean 20.3% extension of the entire metatarsal. High patient satisfaction as well as high satisfaction regarding the cosmetic results were achieved. There were no postoperative complications. The range of motion of the metatarsal-phalangeal joint IV was 20% less preoperative in terms of plantar flexion. Standing up on tiptoes was possible in all patients postoperatively. One patient reported mild symptoms after sports activities. Conclusions: Because of its anatomy the graft adapts to the metatarsal IV bone. As our study showed, harvesting from the distal fibula causes no functional restriction. In terms of wound and bone healing as well as pain symptoms, this method should be considered as an alternative to the standard iliac graft.
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  • 文章类型: Journal Article
    OBJECTIVE: Restoration of physiological alignment of the distal tibia and thereby restoration of physiological loading of the ankle joint; joint preservation in asymmetric degenerative arthritis of the ankle.
    METHODS: Congenital deformities of the distal tibia; acquired deformities of the distal tibia; asymmetric degenerative arthritis with partially preserved cartilage.
    METHODS: Absolute contraindications comprise severe nicotine abuse, Charcot arthropathy, peripheral polyneuropathy, relevant peripheral arterial vessel disease, poor local soft tissue condition, acute infection and extensive cartilage damage grade 3-4 in the Outerbridge classification in the complete joint.
    METHODS: Medial and lateral open and closed wedge osteotomies and dome osteotomies of the distal tibia are used, and shortening, lengthening and derotating osteotomies of the fibula.
    METHODS: For 6 weeks, 15-20 kg partial weight-bearing in a below knee cast or a walker orthosis; full weight-bearing depending on osseous healing after 9-12 weeks postoperatively.
    RESULTS: Between July 2012 and May 2017, 15 patients (10 men, 5 women) underwent a supramalleor osteotomy. Average age was 41.8 years (range 17-63 years) and the retrospective average follow-up was 28.7 months (range 3-47 months). Mean preoperative AOFAS (American Orthopaedic Foot and Ankle Society) hindfoot score was 54.3 (range 26-86) and postoperatively a mean of 74.2 (44-100). Preoperatively, 9 patients had varus malalignment and 6 patients valgus malalignment; overall, 4 patients developed complications requiring surgical intervention (26.7%). Osteosynthetic material was removed in 60% of the patients.
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  • 文章类型: Journal Article
    Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot.
    The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase.
    Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded. The full text versions of the remaining 39 articles were obtained, and their reference lists screened, with the addition of another 5 full-text articles.
    Currently, ultrasonography is considered the most reliable method of prenatal diagnosis of clubfoot. Ultrasonographic diagnosis of clubfoot appears more likely between the 18th and the 24th week of pregnancy. Alternative imaging is not indicated. There is no agreement whether to propose foetal karyotyping when isolated clubfoot is diagnosed by prenatal ultrasonography. Early detection of clubfoot should prompt a careful surveillance during pregnancy in order to detect any possible additional abnormalities and, if any of these are detected, invasive testing should be offered.
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