加强对手部先天性畸形的研究

矫正手部先天性畸形是手外科学研究与治疗的重要内容之一。国外文献报道，根据新生婴儿出生登记资料统计，每一千个成活新生婴儿中就可以发现１．７～２．５例手部畸形［１］。在我国，有关报道很少。上海第九人民医院于１９８２年调查上海市区３５万新生婴儿记录，手及上...     

复拇指畸形的临床治疗进展

复拇指畸形是一种常见的手部先天性畸形，国际手外科协会将其划入“孪生畸形”或“多指畸形”的范畴，发病率为0．08％o～0．18‰_l。]。拇指在仝手功能中约占40％，所以在先天性复拇指畸形治疗中拇指功能与外形的修整非常重要。本文就复拇指畸形的分型与手术治疗、特殊检查在诊断中的作用及术后继发畸形的原因等方面作简要综述。     

桡侧球棒手的外科治疗经验

先天性桡侧球棒手（ｒａｄｉａｌｃｌｕｂｈａｎｄ）又称先天性桡侧缺损手（ｒａｄｉａｌｄｅｆｉｃｉｅｎｃｅ），是一种罕见的手及上肢的先天性畸形，其发生率约为１／３万～１０万；主要表现为手及前臂桡侧成分发育不良，桡骨及其相应肌肉、血管、神经不同程度的缺损...     

先天性肛门直肠畸形致病基因研究进展

先天性肛门直肠畸形是较常见的消化道畸形，是世界卫生组织常规监测的先天性畸形之一。其发生率约为1／5000～1／1500。男略多于女，约为1：0.68。其中28％～72％伴发其他畸形，有家族发病史者约占1％～9％”。近十多年来，先天性肛门直肠畸形的基础及临床研究取得了很大进展。人们期望明确该畸形发生的致病基因，在胚胎早期通过基因治疗从根本上预防畸形的发生或修复畸形引起的组织和器官发育缺陷，从而达到提高治疗效果和生活质量的目的。     

先天性脊柱侧凸治疗的临床进展

先天性脊柱侧凸是在胚胎期脊柱生长发育过程中，脊椎分节不全或／和形成不良所致的一种先天性畸形，由于脊柱两侧的生长发育不平衡而出现侧凸。国内报道先天性脊柱侧凸发病率占脊柱侧凸的3．1％～5．19％。献统计约25％的病人合并有脊髓异常，30％的存在泌尿、生殖系畸形，10％的有先天性心脏病。患儿出生后即发生畸形，其病变往往随着年龄增长而进行性加重。不经治疗的先天性脊柱侧凸中，     

并指合并纵向括弧形骨骺1例报告

<正>纵向括弧形骨骺（longitudinal epiphyseal bracket,LEB）是一种罕见的以手、足管状骨的骨化缺陷为特征的先天性疾病，是由于次级骨化中心呈弧形或C形引起的，其发生率和病因尚不清楚，44%的患者有明显的家族史，为常染色体显性遗传^([1])。患者可伴有其他畸形如并指（趾）、多指（趾）、裂手、三节拇等，也可并发于其他先天性畸形综合征，如Rubinstein-Taybi综合征([1])。患者可伴有其他畸形如并指（趾）、多指（趾）、裂手、三节拇等，也可并发于其他先天性畸形综合征，如Rubinstein-Taybi综合征^([2])、Apert综合征等。异常的骨化中心导致受累骨发生进行性缩短和成角畸形。     

屈指症2例的临床治疗分析

屈指症在手部先天性畸形中属于混合性畸形，表现为单指或多指屈曲畸形，可合并先天性关节挛缩症、拇内收、屈曲畸形或棒节手(club hand)等畸形。     

肛门直肠畸形的合并畸形

肛门直肠畸形（anorectal malformation，ARM）是全世界小儿外科医师关注的一个话题。同样。足够的注意力也关注到了与ARM合并的其他系统的多发性先天性畸形。合并畸形的发生率约为50％～60％，ARM的位置越高，合并的畸形越多。许多合并畸形只是偶然发现，而有些畸形如心血管缺陷则可危及生命。     

大龄疑难先天性髋脱位的手术治疗

为进一步提高大龄疑难先天性髓脱位的治疗效果，降低术后严重并发症的发生率，我们总结了过去１０年间经手术治疗的２３８例３１７髋７岁以上学龄儿童及青少年先天性髋脱位，采用Ｍｃｋａｙ临床评定标准评价髋关节功能，优良率为７６．６％，术后股骨头缺血性坏死为１５．１％，髋关节运动受限为１７．７％。重点讨论了年龄因素、局部解剖畸形和病理改变特点与手术的选择，以及作者对预防和减少术后股骨头缺血性坏死和髋关节运动障碍     

双手双足多指（趾）畸形一例报告

双手双足多指（趾）畸形一例报告刘国栋，李琪香，魏春群多指（趾）畸形在先天性手（足）部畸形中较为多见．而生长２５指（趾）畸形者较为罕见，现将我院收治１例报告如下．息儿男性，出生１天．因出生时发现双手（足）多指（趾）畸形而就诊．患儿系第１胎．足月顺产。家...     

先天性脊柱侧凸患者中的脊髓畸形和脊椎畸形

目的:探讨先天性脊柱侧凸患者的各类脊髓畸形与脊椎畸形之间的关系。方法:对我院2003年～2005年收治的211例已确诊的先天性脊柱侧凸患者的临床资料进行回顾性分析,统计先天性脊柱侧凸患者脊髓畸形、脊椎畸形的发生率及其好发部位,观察两者间的关系。结果:211例先天性脊柱侧凸患者中脊髓畸形44例(20.85%),其中脊髓空洞症25例次(11.85%),脊髓纵裂30例次(14.22%),马尾终丝栓系28例次(13.27%),低位圆锥12例次(5.69%),其他类型少见,多种畸形常并发存在;脊髓畸形好发于脊柱胸段、胸腰段、腰段、腰骶段。44例伴有脊髓畸形的先天性脊柱侧凸病例中不良分节34例(77.27%),孤立性半椎体1例(2.27%),非孤立性半椎体21例(47.73%),脊柱裂30例(68.18%),混合型41例(93.18%);脊椎畸形好发于脊柱胸段、腰段、腰骶段。结论:先天性脊椎畸形常合并脊髓畸形,总体上脊髓畸形与脊椎畸形的好发部位相似,但各种脊髓畸形、脊椎畸形间缺少显著的、特定的对应关系。     

Congenital windblown hand position of the fingers]

The wind-blown hand is part of a complex congenital malformation syndrome. In addition to malformations in the head and feet, the hands are deformed in a characteristic manner. The metacarpophalangeal joints are bilaterally in flexion contracture and ulnar deviation. The thumb is adducted (thumb-in-palm deformity), flexed in the metacarpophalangeal joint and hyperextended in the interphalangeal joint. The etiology of this rare congenital syndrome is relatively unknown, although some hypotheses are discussed. Conservative therapeutic procedures include early splinting, but results are often disappointing. Early performed operations may improve hand function.     

The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis

Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site.     

Multi-axial correction system in the treatment of radial club hand

Background

Radial club hand is a well-recognized congenital malformation characterized by hypoplasia of bone and soft tissue on the radial aspect of the forearm and hand. The modalities of treatment have traditionally varied from stretching casts with soft-tissue procedures to the use of multiple corrective osteotomies. These osteotomies can be stabilized by a variety of methods, including external fixators that allow the possibility of gradual distraction with neohistiogenesis. This current study outlines the usage of one such device (multi-axial correction system [MAC]) in the management of deformity associated with severe radial club hand.

Methods

Three consecutive cases of unilateral or bilateral severe (Bayne type IV) congenital radial club hand were corrected using MAC fixation in the last 5 years. This is a retrospective review of all three cases. Data parameters included: patient demographics, presentation findings, degree of deformity, amount of correction/lengthening, length of procedure, length of treatment, and associated complications. The surgical technique is described in detail for the benefit of the readership.

Results

The three patients with severe congenital radial club hand had a total of four limb involvements that underwent correction using osteotomies and usage of the MAC device for external fixation. All three patients underwent successful correction of deformity with the restoration of alignment, lengthening of forearm for improvement of function, and stabilization of the wrist (mean duration, mean lengthening, mean time to consolidation). The MAC system was well tolerated in all patients and associated complications were limited.

Conclusion

The MAC fixator seems to be a good alternative modality of stabilization and correction for severe congenital radial club hand deformities. Its usage is fairly simple and it provides the ease of application of a mono-lateral fixator with far superior three-dimensional control, like the circular external fixator. We recommend that clinicians should add this modality to their armamentarium for the deformity correction of severe radial club hand and others in general.     

Limb lengthening with simultaneous correction of deformities]

In congenital malformation of the limbs the shortening of the extremity appears frequently together with its deformity. With Ilizarov's apparatus the limb may be lengthened simultaneously with the correction of the deformity. In spite of the fact that the use of the apparatus is rather complicated and complications are frequent, in 75 cases out of 102 excellent, in 23 good results were achieved. The various indications and results are demonstrated in 7 cases.     

Spontaneous ruptures of the extensor tendons of the fingers in Madelung's deformity

Madelung's deformity is a congenital malformation with a slow clinical and radiological evolution and few complications. However, we have seen six instances of spontaneous rupture of the extensor tendons of the fingers related to the deformity of the inferior radio-ulnar joint. Treatment consisted of resection of the ulnar head, stabilisation of the distal ulna, and repair of the extensor tendons by tendon transfers. We discuss the possibility of avoiding the tendon ruptures by treating the deformity at an early stage.     

Long-term results after operation for funnel chest

Summary The cases of 36 out of 62 patients who underwent surgical correction of funnel chest deformity between 1978 and 1988 with an average follow-up of 7.6 years were reviewed. The mean age at which the Hegemann operation was performed was 14.1 years. Preoperative cardiorespiratory disorders were reported by 76% of patients, while 71% showed electrocardiographic and pulmonary alterations. Postoperatively, cardiorespiratory disorders were significantly reduced, but the electrocardiographic changes were not. The pre- and post-operative radiological and functional measurements of the chest deformity which allow an objective evaluation of the surgical result are described. Surgical treatment is indicated in most cases of funnel chest deformity, for cosmetic or psychological reasons. The long-term results were good or fair in 90% or more of our cases. We suggested that disfiguring scars with keloid formation cause less psychological distress than persistent congenital malformation of the chest.     

同种异体骨基质明胶治疗鞍鼻畸形的疗效观察

目的：研究同种异体骨基质明胶治疗鞍鼻畸形的可行性。方法：无菌下取人体四肢长骨骨皮质，液氮冷冻10min。骨皮质经氯仿、甲醇脱脂，盐酸脱矿，氯化钙、乙二胺四乙酸、氯化锂处理制备成骨基质明胶。23例患者接受了骨基质明胶植入鼻成形术，其中先天性鞍鼻畸形16例，外伤性鞍鼻畸形7例。结果：经0．5-6年的随访，骨基质明胶植入物无变形或免疫排斥反应，虽有轻微吸收，但外形满意。结论：骨基质明胶植入治疗鞍鼻畸形有临床应用价值。     

Improvement in pinch function after surgical treatment for thumb in the plane of the hand

Thumb in the plane of the hand (TPH) is a congenital deformity in which the nail plane of the radial-most digit is parallel to that of other digits, but structurally the digit retains the characteristics of a thumb. Four hands from four patients were retrospectively diagnosed as having TPH, with the underlying congenital conditions being symbrachydactyly, cleft hand and constriction band syndrome. Thumb web-plasty was carried out in all hands; one required additional rotation osteotomy of the metacarpal. Postoperative hand function was markedly improved and pinch function was possible in all cases. In most cases of TPH, the thumb has the potential to act in opposition, indicating that a thumb web-plasty is worth considering as an initial procedure.     

Classification of congenital thumb hypoplasia and deformity

BackgroundCongenital thumb deformities account for one-third or more of all cases of congenital hand deformity. However, the current classification schemes of congenital thumb hypoplasia are no longer adequate due to their lack of adaptability to increasing knowledge in the field. Hence, a modified system with the potential to adapt to ongoing advances in knowledge and understanding is desperately needed.MethodsBased on the photographs collected from thousands of cases of congenital deformities of the hand and upper limb over multiple decades in our department, we subdivided thumb hypoplasia according to the variables of morphological characteristics, anatomical structures, functional status, the relationship between thumb deformity and hand deformity, the relationship between congenital hand deformity syndrome and thumb hypoplasia, and the selection of treatment methods.ResultsA total of 10 types were presented, which were elucidated with nomenclatures as well as pathological feature and symptoms.ConclusionThis modified system may shed additional light on the classification of congenital thumb anomalies, which will assist in a more effective selection of treatment modalities and offers significant benefits to both patients and practice.