Algorithm for treatment of apert hand

The hand in Apert syndrome is one of the most complex examples of congenital deformity of the upper limb. The management is difficult, and mny different approaches have been published. The hands demonstrate many disturbances of soft tissue and bony structures. These include a short thumb with radial clinodactyly, complex syndactyly with a bony fusion involving the index, long and ring fingers, and symphalangism and simple syndactyly of the fourth web space. The soft tissue anomalies involve the intrinsic muscles, the extrinsic tendon insertions, and the neurovascular bundles. Correction of the appearance of the operated hand is readily apparent, but the complexity of the disorders in the bones and soft tissues explains the difficulty of the surgical management. The aim of this study is to propose a better surgical management: on the basis of the experience of our multidisciplinary team (188 procedures in 53 patients) in the light of recent publications and a better comprehension of the syndrome, we attempt to reduce the number of procedures and to select the best possible procedures for each patient. When possible, we perform a 3-step procedure (the first is bilateral, the others are unilateral) between 9 months and 2 years of age. Separation of the fingers improves function even though we must expect an inevitable stiffness in extension of the interphalangeal joints.     

先天性缩窄带综合征并指畸形的临床分型及治疗策略

目的 研究和分析先天性缩窄带综合征并指畸形的临床特点,建立新的临床分型系统并确立相关的治疗策略.方法 回顾性分析2002年2月至2009年8月经治疗的先天性缩窄带综合征并指畸形40例,以临床形态特点为依据,结合既往已有的Patterson分型、Blauth分型,将具有相同或相似解剖形态学改变的归为同一类型,归纳出新的分型特点.新的分型系统包括:Ⅰ型(IA、m),Ⅱ型,Ⅲ型(ⅢA、ⅢB、ⅢC、ⅢD、ⅢE),Ⅳ型,Ⅴ型,以及Ⅵ型.方果 在本分型系统中,包括了既往Patterson分型、Blauth分型系统中的所有内容,同时增加了新的内容,如ⅢC、ⅢD、ⅢE、Ⅳ型、Ⅴ型,并将Blauth Ⅲ型(Ⅰ型)分为两个亚型.方论 新分型系统详细、全面地涵盖了先天性缩窄带综合征并指畸形的临床形态学特征,为合理选择手术治疗策略提供了基础.     

Bilateral symphalangism of the index fingers

True symphalangism is a rigid digit of normal length. Fusion at the proximal interphalangeal joint is most common, and the index finger is the least likely to be affected. I report the second instance of true symphalangism involving fusion of the distal interphalangeal joints of both index fingers without symphalangism of any other digits. This is the first case reported in a black and was inherited as a simple Mendelian dominant trait.     

Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism.

We experienced a 57-year-old female with adult-onset non-congenital idiopathic acro-osteolysis combined with proximal symphalangism. At the age of 36, she developed severe pain and swelling of the toe base of both feet and underwent Clayton surgery. However, the size of her toes diminished progressively over the 5-year period after surgery. At the age of 41, she suffered pain and swelling of the proximal interphalangeal (PIP) joints of fingers of both hands. These PIP joints became rigid and inflexible. Subsequently, she noticed shortening of the little finger of both hands, followed later by shortening of the index, middle, and ring fingers. At the age of 57, the thumbs began to shorten. Laboratory and endocrinological examinations were not abnormal. Finally, we diagnosed her with acro-osteolysis combined with proximal symphalangism by radiological examination. In this case, previously unreported mutations of the Noggin gene were identified. This is the first case report of adult-onset, non-congenital idiopathic acro-osteolysis combined with proximal symphalangism.     

Congenital constriction band syndrome

A retrospective study of 55 patients with congenital constriction band syndrome was performed. Multiple extremity involvement was found to be the most common clinical feature associated with the disease, and 34% of the patients studied were premature at birth. Malformations included constriction bands, clubfoot, intrauterine amputation, syndactyly, and acrosyndactyly (fenestrated syndactyly). The extremities were most often affected distally, involving the longer central fingers and medial two toes. More proximal involvement with constriction bands was associated with a higher frequency of neurologic deficit. Significant leg-length discrepancy exceeding 2.5 cm was seen in 9 of 38 patients (24%) with lower extremity involvement, a condition that has not been previously reported.     

Congenital hand anomalies in Japan: a family study

During the 20-year period from 1968 to 1987, 1024 patients with congenital anomalies of the hand from 1000 Japanese families were examined in our clinic. Of these patients, 204 had relatives with limb anomalies. While postaxial polydactyly showed a 33% level of familial recurrence, symphalangism and Kirner's syndrome showed about 23% recurrence, syndactyly 18%, radioulnar synostosis 9%, radial ray deficiency 8%, cleft hand 7%, and duplicated thumb 5%. None of the relatives had ulnar deficiency or symbrachydactyly.     

Symphalangism in children. Case report and review of the literature

Symphalangism is an uncommon syndrome characterized by fusion of the interphalangeal joints of the hands and feet. The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. Symphalangism often is associated with several other skeletal and nonskeletal abnormalities. Analysis of the pedigrees of affected families reveals this trait to be autosomal dominant. The authors present the case of a 9-year-old boy with bilateral symphalangism of the proximal interphalangeal joints in the fingers and toes. His father is affected similarly. A comparison of these cases with those published in the literature indicates that although the radiologic appearance of symphalangism appears disabling, the fused phalanges seldom cause disability or loss of function of the hand. Surgical intervention is not required in most patients. The father and son reported also had capitellar hypoplasia and subluxation of the radial head associated with limitation of elbow flexion and extension.     

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Proximal symphalangism(SYM1B)(OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands,typically of the ring and little finger,with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies have identified two possible genetic aetiologies for this syndrome,NOG and GDF5. We herein present a British caucasian family with SYM1 B caused by a mutation of the GDF5 gene. A mother and her three children presented to the orthopaedic outpatient department predominantly for feet related problems. All patients had multiple tarsal coalitions and hand involvement in the form of either brachydactyly or symphalangism of the proximal and middle phalanx of the little fingers. Genetic testing in the eldest child and his mother identified a heterozygous missense mutation in GDF5 c.1313GT(p.R438L),thereby establishing SYM1 B as the cause of the orthopaedic problems in this family. There were no mutations identified in the NOG gene. This report highlights the importance of thorough history taking,including a three generation family history,and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity,and provides details of the spectrum of problems associated with SYM1 B.     

96例先天性并趾畸形的临床特点

目的 探讨先天性并趾畸形的临床特点.方法 对2015年1月至2019年6月华中科技大学同济医学院附属协和医院手外科收治的先天性并趾畸形患者的临床资料进行回顾性分析.记录患者性别以及并趾的侧别、临床类型、是否合并其他肢体畸形、累及的趾蹼和累及趾蹼数量等数据,采用SPSS 20.0软件对数据进行统计学分析,P<0.05为差...     

Proximal symphalangism and premature ovarian failure

Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.     

Syndactyly--a review and long term results.

Syndactyly is classified and the principles of its surgical treatment discussed. The notes of eighty-five patients who had 222 webs between them were reviewed. A long term follow-up was carried out on thirty-two of these patients who had seventy-six clefts separated. The sexual and anatomical distribution of the syndactyly was investigated. The results of surgery were assessed including complications, and the relationship of complications to the type of graft used and the age at operation. It is suggested that complicated syndactyly is often separated at too early an age.     

Multifocal tuberculous dactylitis: a case report

INTRODUCTION: Tuberculous dactylitis (TD) is a rare disorder. It is the source of a diagnostic hardship as it is difficult to distinguish from other lesions. We report an unusual case with multiple affected sites both in hands and the right big toe. CASE REPORT: A 42-year-old female initially presented with two painful tumefactions affecting the left third finger and the right middle finger. These tumefactions had been present for two months. Conventional radiography and computed tomography of the hand revealed soft tissue swelling with bone expansion and cortical destruction in the proximal, middle and distal phalanx of the third finger, the proximal phalanx of the middle finger in the left hand, the proximal and middle phalanx of the middle finger of the right hand. Bone scintigraphy showed additionally infraradiologic localisation in the proximal phalanx of the first right toe. Pathology examination of a biopsy specimen revealed granulomatous osteitis with caseous necrosis. Antituberculosis treatment led to initial clinical remission followed by a recurrence and lesion spreading due to bacteria resistance. The second line treatment with Rifampicine, Ciprofloxacine, Ethambutol and Clarithromycine induced favorable outcome. CONCLUSION: Tuberculosis dactylitis is well tolerated for a long time leading to a late diagnosis which may favour its spreading. Antituberculosis treatment is effective but the functional outcome depends on early diagnosis.     

Osteoid osteoma multifocally located and recurrent in the carpus

The authors report a case of osteoid osteoma located simultaneously at the right carpitate and at the proximal part of the right third metacarpian. A 31-year-old man presented in 1997 an osteoid osteoma involving the right capitate. One year after the surgical excision of the tumor, a second osteoid osteoma reappears to the same place requiring a 2nd intervention. A 3rd osteoid osteoma was discovered 16 months later at the proximal part of the right third metacarpian. After every excision, the pathological aspect was compatible with a nidus of osteoid osteoma. Osteoid osteoma of capitate are very rare. Multifocal forms are exceptional. If relapses of the tumor are sometimes explained by the incomplete excision of the nidus, the pathogenesis of the true recurrence remains unclear.     

Off-pump coronary artery bypass and right ventricular branch translocation for coronary aneurysm; report of a case

The successful surgical treatment for a coronary artery aneurysm was reported. A 38-year-old female presented with angina pectoris due to right coronary artery stenosis. Angiography revealed a right coronary artery aneurysm and 90% stenosis at a site just proximal to the aneurysm, accompanied by the relatively large right ventricular (RV) branch originating from a mid portion of the aneurysm. Off-pump coronary artery bypass grafting (CABG) to the right coronary artery (RCA) #3, translocation of RV branch to RCA #3, and ligation of RCA proximal and distal to the aneurysm were successfully performed. Post-operative course had been uneventful with satisfactory angiographic results. Coronary translocation with CABG could be a treatment option for coronary artery aneurysms.     

Contrary intermittent skin release of complete syndactyly without skin graft in adults

INTRODUCTION: There are many different surgical treatment techniques of complete syndactyly. Most of them are techniques involving using skin grafts. We developed a surgical technique that does not require skin grafts, which cause problems in the distal nail border pulp and interdigital web space. MATERIALS AND METHODS: Syndactyly release was performed in 12 web spaces of 11 adult male patients. The average age was 21. In addition to a zig-zag incision, contrary intermittent skin release was performed. Primary coverage of the interdigital web space and nail border pulp was achieved without skin graft. RESULTS: We obtained good results by the contrary intermittent skin release method that we developed, in adult complete syndactyly patients who had no chance for the surgical treatment due to several reasons, previously. CONCLUSION: With such a surgical technique, in our cases we obtained successful results, both cosmetic and functional. The presented technique is an alternative method for syndactyly release without using skin graft in adult patients.     

Ostéome ostéoïde à localisation multifocale et récurrente du carpe

The autors report a case of osteoid osteoma located simultaneously at the right carpitate and at the proximal part of the right third metacarpian. A 31 years old man presented in 1997 an osteoid osteoma involving the right capitate. One year after the surgical excision of the tumor, a second osteoid osteoma reappears to the same place requiring a 2nd intervention. A 3rd osteoid osteoma  was discovered 16 months later at the proximal part of the right third metacarpian. After every excision, the pathological aspect was compatible with a nidus of osteoid osteoma. Osteoid osteoma of capitate are very rare. Multifocal forms are exceptional. If relapses of the tumor are sometimes explained by the incomplete excision of the nidus, the pathogenis of the true recurrence remains unclear.     

Peripheral nerve palsy associated with congenital constriction band syndrome.

Of 21 patients with congenital constriction band syndrome treated in our clinic from 1967 to 1988, four had constriction bands proximal to the wrist. Three of these also had a peripheral nerve palsy. Late surgical decompression does not help but early diagnosis, using electrodiagnosis methods, and neurolysis or nerve grafting as soon as possible may improve nerve function.     

Coronary artery bypass graft for anomalous right coronary artery

A 27-year-old man with anomalous right coronary artery (RCA) presented with ventricular fibrillatory arrest. Computed tomography angiography revealed an anomalous RCA arising from the left sinus of Valsalva with an acute angulation at the coronary takeoff and compressed interarterial segment. This patient underwent a short saphenous vein coronary artery bypass graft to the proximal RCA and recovered uneventfully. A review of the literature and discussion of the surgical management is presented.     

Late vascular complication after fracture of the proximal humerus

A case of late vascular complication after a fracture of the proximal humerus is presented. The main clinical feature was neurological loss of the brachial plexus, while angiography showed no rupture or false aneurysm. The long delay before surgical intervention caused irreversible damage to the nerves. Early diagnosis and surgical intervention are emphasized.