Clinical Features and Operative Findings of Congenital Flexion Deformity of Multiple Digits

ABSTRACT Thirty-six cases with congenital flexion deformities of multiple digits were classified into six types such as congenital contractural arachnodactyly, distal arthrogryposis, Freeman-Sheldon-like syndrome, congenital aplasia of the extensor muscles of the digits, ulnar drift type and multiple camptodactyly type. Many common clinical features of the hands were observed among these deformities. In eleven cases, 18 hands were treated surgically and were followed up for more than a year. During surgery, complete correction or signigicant reduction of the deformity was achieved in most cases. From these operative findings, it was assumed that the main cause of congenital flexion deformity of multiple digits was contracture of the palmar skin and retaining ligaments of the skin. At follow up, complete correction was achieved in 10 hands, and incomplete or minimal correction in eight hands.     

Bedeutung der Erkennung von kongenitaler kontraktureller Arachnodaktylie (Beals-Hecht-Syndrom)

We report on a nearly 3-year-old girl with slight delay in mental and motor development. She exhibited the typical symptoms of congenital contractural arachnodactyly (CCA) such as multiple flexion contractures, arachnodactyly, and deformities of the external ears (“crumpled ears”) as well as characteristic craniofacial dysmorphias. Occasionally, hypoplasia of the calf muscles can be observed, but in this case was only unilateral. As was the case in this patient, life-shortening congenital cardiovascular malformations are usually not present, emphasizing the importance of identifying CCA, which mostly implies a normal life expectancy and tendency toward improvement of knee and foot joint contractures that impede motor development. Neonatal Marfan syndrome with frequently lethal course can be diagnosed by molecular genetic testing and by the downward slant of the palpebral fissures; in cases of associated mental retardation, trisomy 18 can be excluded by chromosome analysis.     

The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate

A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.     

股骨远端截骨和髌腱止点远端移位联合手术治疗儿童脑瘫屈膝步态的近期效果评价

目的 评价股骨远端截骨和髌腱止点远端移位联合手术治疗儿童痉挛性脑瘫屈膝步态的近期效果.方法 2009年4月至2012年7月对存在屈膝步态、膝关节固定屈曲畸形10°～30°的痉挛性脑瘫儿童行股骨远端截骨和髌腱止点远端移位联合手术.16例(26侧下肢)纳入研究,其中男11例,女5例,年龄7.5～11.6岁,平均8.9岁.术后高分子绷带固定6周,拆除石膏后功能锻炼,夜间长腿管型支具固定维持矫形.记录手术前后的膝关节固定屈曲畸形角度、腘角、膝关节活动范围、屈膝步态改善情况、膝关节疼痛视觉模拟评分(VAS)评分、股四头肌肌力、腘绳肌肌力、小腿三头肌肌力、侧位膝关节X线片Insall-salvati指数和Wren改良的屈膝步态的医师视觉评分,并进行统计学分析.结果 GMFCS分级为Ⅱ级9例,Ⅲ级7例,无GMFCS分级Ⅰ、Ⅳ、Ⅴ级病例.均行股骨远端截骨和髌腱止点远端移位联合手术.6侧下肢同时行髂腰肌松解术.10侧下肢同时行跟腱延长术.病例随访48～65个月,平均54个月.治疗后所有病例屈膝步态均明显改善或消失.患儿膝关节疼痛VAS评分较术前降低(P＜0.05).膝关节屈曲畸形角度及腘角明显减小(P＜0.01),膝关节屈伸活动范围明显增大(P＜0.01).股四头肌肌力显著增加(P＜0.05).腘绳肌肌力、小腿三头肌肌力无显著变化.侧位膝关节X线片Insall-salvati指数明显减小,髌骨高位得到纠正.2例(2侧下肢,7.7％)出现一过性坐骨神经损伤症状,经更换高分子绷带,增大膝关节屈曲至20°左右,并予营养神经等对症处理后症状消失.2例(3侧下肢,11.5％)出现切口感染,经换药处理后愈合.3例(3侧下肢,11.5％)出现股骨截骨远端轻度移位,未做特殊处理,截骨端塑型良好.无一例出现过度矫正、膝反屈、压疮等其他并发症.结论 股骨远端截骨和髌腱止点远端移位联合手术治疗儿童脑瘫屈膝步态能有效改善步态,纠正膝关节屈曲畸形和髌骨高位,增加股四头肌肌力,减轻膝关节疼痛,近期效果良好.     

Partial trisomy for short arm of chromosome 5

We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in Japan. The features are characterized by hypertelorism, low set ears, arachnodactyly, laryngostenosis, hypotonia and some cerebral malformation. The characteristic facial expression and arachnodactyly are the key features used to diagnose this disorder. A high-resolution chromosome banding technique showed that the karyotype of the first patient was 46, XX, inv dup(5) (p13.1 ← p15.3) de novo and that of the second patient was 46, XX, dir dup(5) (p13.3 ← p15.2) de novo. The similar symptoms in the two cases, despite the difference in karyotypes, were caused by duplication of 5p including segment 5p13. This would be a key site for this disorder.     

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. Death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age. Conclusion:molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).Abbreviations cbEGF calcium binding EGF motif - CCA congenital contractural arachnodactyly - EGF epidermal growth factor - FBN1 fibrillin-1 gene - FBN2 fibrillin-2 gene - MFS Marfan syndrome - nMFS neonatal Marfan syndrome     

先天性多发关节挛缩症膝和足部畸形的治疗

目的：观察先天性多发性关节挛缩症膝和足畸形治疗。方法：回顾性报告1980－1997年治疗35例42膝和66足先天性多发关节挛缩症临床资料。根据Sodergard评定方法进行综合评价。结果：膝关节伸直型无论是保守治疗或手术治疗的疗效均强于屈曲型，足初次术后畸形复发占73．3％，有的足需三次手术，结论：膝部屈曲型治疗结果差，足部手术治疗应在1岁前行彻底的软组织松解。     

The clinical spectrum of congenital contractural arachnodactyly

A case of congenital contractural arachnodactyly with severe cardiovascular malformations is described. This case and two other reports of CCA with congenital heart disease from the literature indicate a wider spectrum of clinical manifestations in CCA than generally assumed. The pattern of abnormalities suggests that the underlying connective tissue abnormality in CCA is “spotty” and not generalized as in such disorders as the Marfan syndrome, Stickler syndrome and arthro-dento-osteo dysplasia.     

小腿肌间海绵状血管瘤并跟腱挛缩强直畸形的手术治疗

目的探讨小儿小腿肌间海绵状血管瘤导致跟腱挛缩畸形的手术治疗方法.方法 回顾性分析21例小腿肌间海绵状血管瘤患儿(男7例,女14例;年龄2～11岁)的临床资料,在本院首次手术13例,另8例曾在外院行手术治疗.均存在小腿腓肠肌及比目鱼肌肌间海绵状血管瘤导致跟腱挛缩强直畸形.均采用血管瘤切除+Z形跟腱延长术,统计并评价手术效果.结果 所有病例中血管瘤完整切除19例,为保留正常功能,2例重症患儿行部分切除术,全部病例行Z形跟腱延长术,术后随访6个月～1 a,一期手术成功率为95.2%;21例患儿均可正常行走,踝关节功能正常,其中2例踝关节活动度有不同程度受限.结论 血管瘤切除+Z形跟腱延长术可尽早切除瘤体,纠正踝关节功能,有效治疗小腿肌间海绵状血管瘤致跟腱挛缩畸形,为患儿保持正常行走提供可能.     

Congenital Humero-radio-ulnar Synostosis with Constriction Ring and Flexion Contracture of the Fingers: A Case Report

ABSTRACT Congenital humero-radio-ulnar synostosis (HRUS) is a rare malformation. Some cases are hereditary in origin and some are sporadic. We report on a sporadic case of HRUS.
A patient with HRUS is described who had constriction ring on the left upper limb and flexion contracture of the wrist joint and fingers. There was no range of motion nor crease at the elbow joint. Hypoesthesia was noted at the distal part of the ring of the upperarm as she did not respond to pin-prick. But circulatory failure like cyanosis or congestion was not seen on the extremity. No operation was performed to release the constrictive ring because it was not so deep. Only splint was applied to correct flexion contracture of the thumb, middle finger and ring finger. Three months later, examination of the thumb and fingers showed full extention. The sense to pain by pin-prick has been improved as the ring on the upperarm shallowed. A minor ischemic change may have been caused by the ring and followed by the contracture and the sensory disturbance. Synostosis also may have been related with the ring.     

Congenital Anomalies of the Elbow Joint: Clinical Features and Classification

In order to examine the distribution of different types of congenital anomalies of the elbow joint and discuss their classification, a total of 94 patients, 96 congenital anomalies of the elbow joint, were analyzed. They were classified according to the elbow deformity itself as follows; radio-ulnar synostosis in 59 cases (61%), radial head dislocation in 23 cases (24%), ankylosis of the elbow joint in eight cases (8%), severe flexion contracture of the elbow joint in three cases (3%), and complete or partial aplasia of the elbow joint in three cases (3%). On the other hand, congenital elbow deformities can be classified into three types according to the associated anomalies. In 78 patients, in which congenital elbow deformity appeared as an independent deformity, there were radio-ulnar synostosis in 56 patients, radial head dislocation in 19 patients, ankylosis of the elbow joint in two patients, and hypoplasia of trocholea in one patient. In the 13 patients, which congenital elbow deformity appeared as a part of congenital upper limb anomalies, the underlying congenital anomalies of the upper limb were ulnar deficiency in eight patients, radial deficiency in two patients, transverse deficiency in two patients, and phocomelia in one patient. In five patients, elbow deformity appeared as a part of congenital syndromes. Classification according to associated anomalies seems to be more suitable in order to examine the real distribution of different types of congenital deformities of the elbow joint as a part of the upper limb.     

儿童甲下外生骨疣的临床诊疗分析

目的分析儿童甲下外生骨疣的临床特点和治疗效果。方法收集首都医科大学附属北京儿童医院骨科2008年1月至2019年9月收治的22例甲下外生骨疣患儿的临床资料。其中,男16例,女6例;年龄为(120.2±34.7)个月,范围为43~182个月;病程为(13.5±10.7)个月,范围为3~48个月。21例的病灶位于趾骨末节,1例位于指骨末节(右手示指)。21例中,左足8例,右足13例;[足母]趾14例,第2趾3例,第3趾3例,第4趾1例。平均随访时间为23.5个月,范围为6~57个月。有明确外伤史的患儿4例,有明确感染的5例;18例有趾(指)甲畸形;17例趾(指)甲有压痛。记录患儿甲下外生骨疣的发生部位、趾(指)甲有无畸形、有无压痛、有无外伤史、有无感染、手术方式等。结果22例患儿均接受手术治疗,效果良好,其中Ⅰ型3例,Ⅱ型13例,Ⅲ型6例。术中对27.3%(6/22)的患儿拔甲,72.7%(16/22)的患儿没有拔甲,27.3%(6/22)的患儿修补缝合甲床,若不能直接缝合,则削切正常甲床的薄层组织作为补片修补缝合甲床;4.5%(1/22)的患儿复发并接受二次手术治疗。所有患儿的平均随访时间为23.5个月,范围为6~57个月。所有患儿术后未见足趾或手指坏死、甲沟炎、趾(指)甲变形等并发症,趾(指)甲外观平坦,患儿及家长满意。所有患儿接受手术的足趾或手指均无活动受限、僵硬等功能异常,末次随访时日常活动及运动功能均不受影响,其中有1例患儿甲下骨疣切除术后3个月复发,重新行甲床分离病灶切除术,术后随访12个月未见再次复发。结论儿童甲下外生骨疣是一种少见的良性疾病,多见于[足母]趾,可能与外伤有关。手术是有效的治疗方法,根据病灶部位与甲床的关系,选择合适的切口与甲床的处理方式,有助于提高治疗效果。     

The false cortical thumb

Two cases of thumb-in-palm deformity are presented that are postulated to be complications of repeated radial artery puncture and cannulation with secondary damage to the thumb extensor tendon sheath and its extensor pollicis brevis and abductor pollicis longus tendons. Nonfixed adduction-flexion posturing of the thumb is to be differentiated from "the cortical thumbs" often associated with adduction, flexion contracture of upper motor neuron injury, and other disorders with thumb-in-palm deformities. The risks of complication of radial artery puncture are multiple. An added risk is the potential for impaired extensor tendon function as a complication of a radial puncture.     

弹性髓内针固定治疗Gartland Ⅲ型儿童肱骨髁上骨折

目的 探讨弹性髓内针固定治疗Gartland Ⅲ型儿童肱骨髁上骨折临床疗效和治疗体会.方法 回顾性分析我院自2013年5月至2015年2月采用弹性髓内针治疗的Gartland Ⅲ型儿童肱骨髁上骨折共28例,其中男16例,女12例,患儿年龄2岁6个月～11岁,平均年龄5.1岁.所有患儿均为闭合性损伤.在麻醉下和C型臂透视下,先行骨折闭合手法复位,复位满意后取直径合适大小弹性髓内针2枚,折弯后由肱骨近端外侧1.5cm纵行切口穿入肱骨骨髓腔,直至骨折线远端干骺端内固定.上肢绷带悬吊制动.术后定期随访行X线检查,按照Flynn功能评价标准评定疗效.结果 本组28例全部获得随访,随访时间6～27个月,平均10.5个月,随访期最短6个月,最长27个月.从临床表现及X线片评估患肢骨折愈合及功能情况,术后1周患肢活动稍受限,术后1个月均去除悬吊绷带并患肢自由屈伸活动,根据骨折愈合情况术后取钉时间最短33 d,最长8周.最后一次随访时,所有患儿Baumann角、前倾角均在正常范围内.患儿均未发生伤口感染、髓内针移位,未出现Volkmann挛缩、肘内翻畸形、神经损伤.按照Flynn功能评分,优25例,良3例.结论 弹性髓内针治疗Gartland Ⅲ型儿童肱骨髁上骨折能避免损伤神经,因切口位置隐蔽,创伤小;内固定稳定无需石膏外固定,能防止前臂Volkmann挛缩的发生,是一种安全、可行的治疗方法.     

先天性臀肌挛缩症

目的 总结儿童先天性臀肌挛缩症的诊断和治疗心得。方法 自1982年～2000年共治疗216例臀肌挛缩症，其中，15例为先天性臀肌挛缩症。平均年龄6．1岁(3～12岁)，男9例，女6例，双侧11例，单侧4例。15例患儿共同的体征为：双膝并拢后不能下蹲。翘“二郎腿”动作受限，八字脚步态，尖臀征明显。手术采用臀部大切口由髂后上棘下2cm，沿髂骨翼向下弧形至股骨大转子后侧．再向前切口暴露，广泛松解挛缩组织，术后2～3d开始在床上中立位或内收位屈髋活动。结果 术中见挛缩范围广泛．臀大、中、小肌及髂胫柬均有变性纤维化，甚至在梨状肌等一些小的肌肉也有挛缩。有1例术中发现．坐骨神经被挛缩的变性组织压迫而变扁。术后随访时间最长为20年4个月，最短为2年6个月．平均为8年2个月。15例中，非常满意的12例，髋关节活动基本达到正常或接近正常，可以在内收位做屈髋活动，能翘“二郎腿”。3例只能在中立位屈髋活动。内收位做屈髋活动时轻度受限，但双下肢并拢时下蹲无受限。15例中无一例出现手术并发症，家长均感满意。结论 先天性臀肌挛缩症不单纯是臀肌的挛缩，大部分存在臀大、中、小肌以及髋关节外展外旋肌群的挛缩所致。大切口可充分暴露，彻底松解挛缩变性的肌肉组织，使手术获得成功，并避免损伤坐骨神经。     

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目的探讨儿童感音神经性耳聋(SNHL)内耳多层螺旋CT(MSCT)特点及其对诊断的价值。方法选取2008年1月至2010年12月中国医科大学附属盛京医院经脑干听觉诱发电位(BAER)诊断儿童SNHL患儿65例,均行内耳MSCT扫描,然后行冠状面多平面重建(MPR)。结果 20例(33只耳,45例次)存在内耳畸形,其中12只耳多种畸形并存,包括耳蜗畸形伴内耳道畸形5只耳;耳蜗畸形伴前庭导水管扩大3只耳;前庭畸形伴内耳道畸形2只耳;半规管畸形伴前庭导水管扩大1只耳;内耳道畸形伴前庭导水管扩大1只耳。45例次畸形中耳蜗畸形10例次[包括Michel型1例次、共同腔畸形2例次、耳蜗未发育1例次、耳蜗发育不全1例次、不完全分隔Ⅰ型2例次、不完全分隔Ⅱ型(Mondini畸形)3例次]、前庭畸形7例次、半规管畸形5例次、内耳道畸形8例次、前庭导水管扩大15例次。结论根据MSCT检查结果显示多数SNHL患儿存在内耳畸形。内耳横断面MSCT扫描和冠状面MPR可对儿童先天性SNHL内耳畸形进行全面评估,从而为进一步指导治疗及预后提供有力依据。     

Diagnosis and management of infantile marfan syndrome

Marfan syndrome is infrequently diagnosed early in infancy. The experience of the authors with 22 severely affected infants diagnosed as having Marfan syndrome in the first 3 months of life is described and the literature on 32 additional infants with Marfan syndrome is reviewed. It was found that serious cardiac pathology (82% of the patients described in the article, 94% of those described in the literature) may be present at birth, and that congenital contractures (64% of our cases, 47% of literature cases) are often an associated finding. Other useful clinical findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. Echocardiography was useful as a noninvasive method for defining the extent of cardiovascular involvement and following its course. Characteristic cardiac findings in early life included mitral valve prolapse, valvular regurgitation, and aortic root dilation. Cardiac function ranged from normal to poor, with a tendency to worsen. Of the 22 cases 3 infants died during the first year of life. Morbidity and mortality may be high when Marfan syndrome is diagnosed during infancy, and prompt recognition of this phenotype can facilitate management and counseling. Most such severe cases appear to be due to a sporadic mutation in a single germ cell of one parent. Many familial cases may have milder manifestations, be more difficult to detect during infancy, and have a better prognosis.     

阔筋膜张肌腱膜转位术治疗注射性臀肌挛缩症

１９８４～１９９２年，应用单纯的挛缩组织切断术治疗注射性臀肌挛缩症９５５例，大部分获得比较满意的效果，少数病例术后出现髋关节外展，肌力量减弱和臀部凹陷。１９９３年以来，应用阔筋膜张肌腱膜转位术治疗臀肌挛缩症１０２例，治疗效果满意。这种方法既能达到挛缩组织切断术的手术效果，又可弥补其不足。     

An infant with marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies,cerebral white matter hypoplasia and spinal axonopathy

An infant is presented with a Marfanoid phenotype and congenital contractures. In addition to this she showed severe neurological and ocular abnormalities. Cardiac insufficiency due to mitral and tricuspidal valve prolapse caused her death at the age of 6 months.Postmortem examination showed axonal pathology of the anterior horns and roots of the spinal cord, and white matter hypoplasia of the brain.Abbreviation CCA congenital contractural arachnodactyly     

Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) is caused by mutations in the gene for fibrillin 2 glycoprotein, a component of connective tissue. The causes of osteodystrophy or osteodysplasia in CCA are unknown. We report bone metabolism in a 28 month-old girl with CCA. Serum alkaline phosphatase and osteocalcin levels were 650 IU/l and 22 ng/ml at 1.5 months old (control: 530+/-65, 16.5+/-4.3), and 580 IU/l and 21 ng/ml at 28 months old (control: 465+/-58, 15.0+/-3.5), i.e. in upper-normal levels. The urinary pyridinoline and deoxypyridinoline levels were 1176 and 194 micromol/mol creatinine at 1.5 months old (control: 329+/-76, 63+/-12), and 407 and 111 micromol/mol cr at 28 months old (control: 231+/-49, 50+/-11), apparently higher than the control values. These findings may indicate that abnormal fibrillin may impair bone metabolism and cause the osteodystrophy or osteodysplasia in CCA.