A new patella syndrome

A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology.     

Correlation between patella and patellar tendon width: An anatomic study

Anterior cruciate ligament (ACL) rupture is a common injury among orthopaedic patients with many different treatment modalities including bone-patella-bone autograft (BPBA) ACL reconstruction. Patella tendon width has been reported to be a predictor of recovery speed and success following BPBA repair. This study reports on the strength of the relationship between patella width and patella tendon width. Twenty fresh frozen cadavers were included in the study. Patella and patellar tendon measurements were recorded at the midpoint of the patellar tendon. Pearson correlation and linear regression were used to determine the relationship between patella width and patellar tendon width. Bivariate correlations with 95% confidence intervals and coefficients of determination (R(2) ) are reported. The study used 20 cadavers, 12 men and 8 women with a mean age of 72 (standard deviation [SD] = 12; range = 44 to 87). The mean patella width was 49.24mm (SD = 4.11; range 42.33mm-56.33mm) while the mean patellar tendon width was 26.10mm (SD = 3.31; range 18.33mm-33.33mm). The correlation between patella width and patellar tendon width was 0.67 (95% confidence interval = 0.45 - 0.81). R(2), the percent of variance in patellar tendon width accounted for by patella width, was 0.45. The regression equation for predicting patellar tendon width (y) yielded a formula of y = 0.536 + -0.316 × patella width. A moderate correlation exists between patella width and patellar tendon width. Our data suggests that this correlation is strongest with wider patellas and is more loosely associated with smaller patellas.     

Brachymesomelia-renal syndrome

We have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case. Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.     

Genetics of patella hypoplasia/agenesis

The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail‐patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management. We review the clinical characteristics of these rare diseases, provide guidance to facilitate the diagnosis and discuss how the genes involved could affect patella development.     

Sesamoid bones also show functional adaptation in their microanatomy—The example of the patella in Perissodactyla

The patella is the largest sesamoid bone of the skeleton. It is strongly involved in the knee, improving output force and velocity of the knee extensors, and thus plays a major role in locomotion and limb stability. However, the relationships between its structure and functional constraints, that would enable a better understanding of limb bone functional adaptations, are poorly known. This contribution proposes a comparative analysis, both qualitative and quantitative, of the microanatomy of the whole patella in perissodactyls, which show a wide range of morphologies, masses, and locomotor abilities, in order to investigate how the microanatomy of the patella adapts to evolutionary constraints. The inner structure of the patella consists of a spongiosa surrounded by a compact cortex. Contrary to our expectations, there is no increase in compactness with bone size, and thus body size and weight, but only an increase in the tightness of the spongiosa. No particular thickening of the cortex associated with muscle insertions is noticed but a strong thickening is observed anteriorly at about mid-length, where the strong intermediate patellar ligament inserts. The trabeculae are mainly oriented perpendicularly to the posterior articular surface, which highlights that the main stress is anteroposteriorly directed, maintaining the patella against the femoral trochlea. Conversely, anteriorly, trabeculae are rather circumferentially oriented, following the insertion of the patellar ligament and, possibly also, of the quadriceps tendon. A strong variation is observed among perissodactyl families but also intraspecifically, which is in accordance with previous studies suggesting a higher variability in sesamoid bones. Clear trends are nevertheless observed between the three families. Equids have a much thinner cortex than ceratomorphs. Rhinos and equids, both characterized by a development of the medial border, show an increase in trabecular density laterally suggesting stronger stresses laterally. The inner structure in tapirs is more homogeneous despite the absence of medial development of the medial border with no “compensation” of the inner structure, which suggests different stresses on their knees associated with a different morphology of their patellofemoral joint.     

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso‐Kikuchi syndrome)

We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below ×3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent‐shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term “congenital onychodysplasia” being too indefinite. © 2001 Wiley‐Liss, Inc.     

髌骨高度的测量及高位髌骨的研究进展

背景：随着运动医学的不断发展以及对髌股关节疾病的深入研究,高位髌骨作为髌股关节病的重要发病因素被越来越多的研究,其影像学测量指标众多,广大临床医生和影像学工作者尝试早期诊断和治疗这一重要疾病。 目的：对高位髌骨的影像学诊断及最新进展进行综述,指出各个指标的优点和局限性,为下一步研究拓宽思路。 方法：应用计算机检索1989至2013年中国知网及Pubmed数据库,关于髌骨高度测量、高位髌骨的影像学诊断方面的文献报道,并对不同的诊断指标进行归纳综述。中文检索词为“高位髌骨、髌骨高度、髌骨位置、诊断、测量”,英文检索词为“patella alta, patella height,measurement,diagnosis”。 结果与结论：目前临床上常用的评估髌骨高度的指标很多,主要被分为两类：一类是间接指标,评估髌骨与胫骨之间的位置关系,比如经典的Insall-Salvat(IS)指数,Blackburne-Peel(BP)指数,和Caton-Deschamps(CD)指数。另一类是直接指标,评估髌骨与股骨之间的关系。包括等“The patellotrochlear index”,“The patellophyseal index”等。现在认为,髌股关节的生物力学是阐明髌骨关节紊乱疾病基础的关键。随着MRI技术的推广,直接评估髌股关节关节软骨面位置关系的指标如髌骨滑车指数被认为反映髌股关节的实际匹配状况的最佳指标。但对于髌骨滑车指数的研究同样有不少问题等待解决。 中国组织工程研究杂志出版内容重点：组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松;组织工程全文链接：     

Lethal syndrome of slender bones,intrauterine fractures,characteristic facial appearance,and cataracts,resembling Hallermann-Streiff syndrome in two sibs

We report on a family in which 1 male infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann-Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal-recessive inheritance, or of a dominant mutation with parental mosaicism. © 1995 Wiley-Liss, Inc.     

Curry-Hall syndrome

Curry and Hall [1979] described a large Spanish-Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs. We describe a patient with similar manifestations, but from a different geographic and ethnic background. We propose that the disorder be called the Curry-Hall syndrome.     

Additional features of unique Primrose syndrome phenotype

Primrose syndrome is a unique condition of intellectual disability, dysmorphic facial features, and specific minor abnormalities including large calcified ear auricles. Only six patients have been previously reported. We describe a Brazilian boy with the striking similar facies and the main clinical findings that reinforced the singular phenotype of this rare disorder. The key features of all patients already published were compared. Our young patient has abnormalities that were not observed in preceding reports: nail dysplasia and hyperuricemia.     

双重张力带治疗老年骨质疏松性髌骨骨折

背景:张力带系统目前被广泛用于治疗髌骨骨折,然而对于老年患者,由于骨质疏松及骨折粉碎,采用传统张力带固定对髌骨的稳定性较弱,易出现复位丢失、骨折移位等问题。目的:探讨双重张力带治疗老年骨质疏松性髌骨骨折的可行性。方法:纳入2016年1月至2018年5月大连医科大学附属第二医院创伤骨科收治的15例老年骨质疏松性髌骨新鲜骨折患者,其中男6例,女9例,年龄60-74岁,均接受双重张力带内固定治疗,术后不固定。记录骨折愈合时间、并发症发生情况,随访观察患者膝关节活动范围及Bostman髌骨骨折临床疗效评分。研究得到大连医科大学附属第二医院伦理委员会批准。结果与结论:①15例髌骨骨折均愈合,愈合时间2.0-3.0个月;②随访12-18个月,15例患者无伤口感染,无膝关节僵硬及疼痛不适,无骨折再移位,无内固定物松动及脱出;③末次随访时,15例患者膝关节活动度为(127.5±5.8)°,屈曲活动度较健侧减少(8.7±6.5)°;Bostman髌骨骨折功能评分优13例,良2例,优良率为100%;④结果表明,双重张力带固定治疗老年骨质疏松性髌骨骨折能满足患者术后即刻开始功能康复的要求,骨折固定稳定,膝关节功能恢复满意。     

髌骨骨折固定术式选择及生物力学分析

目的：分析不同类型的髌骨骨折的解剖及生物力学特点，结合临床分析及探讨内固定方法的选择、疗效及应用中需注意的问题。方法：根据作者近12年来对72例髌骨骨折患者的资料分析及随访，对3种骨折类型的术式及治疗效果作分析对比。结果：72例患者中65例获随访，平均随访时间l.5年。所有骨折均I临床愈合，无明显移位。以术后不同时期膝关节功能和X线检查综合判断疗效。粉碎性骨折及下、上极骨折组以记忆合金髌骨爪加螺钉固定为优，横断骨折组以空心加压螺钉加钢丝张力带固定为优。结论：应根据骨折的类型选择内固定术式，以记忆合金髌骨爪加螺钉固定及中空螺钉加钢丝张力带固定为首选。     

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.     

The trichorhinophalangeal syndrome with repeated dislocation of the patella

The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for Ehlers-Danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. Literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome.     

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.     

正常髌骨厚度和高度测量及其临床意义

目的:测量髌骨厚度与长度,为微创张力带固定法治疗髌骨骨折提供解剖学依据。方法:360份无髌骨损伤的X线片,在X线片上髌骨关节面中点做其垂线(L0),取垂线中点做髌骨关节面的平行线(H0);成人髌骨标本60个,在髌骨关节面中央嵴(L1)两侧各0.5mm处做其平行线L1、L2,以中央嵴的中点(H1)做水平线,与前两条平行线相交H2、H3。测量髌骨的长度(L)及厚度(H)。结果:X线片髌骨测量厚度为(21.32±0.12)mm,髌骨长度为(42.36±0.18)mm。髌骨标本测量厚度,H1为(22.42±0.14)mm,H2(19.42±0.88)mm,H3(18.42±0.96)mm;最小为14.12mm。髌骨长度,L1为(44.58±0.28)mm,L2为(40.28±0.94)mm;L3为(38.36±0.88)mm;最小为26.32mm。左右两侧比较无显著性差异(P>0.05)。结论:髌骨厚度及长度的测量可为髌骨骨折治疗及手术器械研制提供解剖学参数。     

老年人髌骨骨折钛镍记忆合金抓髌器内固定的临床分析

目的 探讨老年人髌骨骨折特点及采用钛镍记忆合金抓髌器内固定的疗效.方法 对1998年1月～2006年3月收治的62例老年人髌骨骨折,术前随机分成两组,A组30例,记忆合金抓髌器内固定.B组32例,克氏针钢丝张力带内固定.结果 62例均获随访,随访时间6～24个月,平均12个月.根据术后X线片及关节功能恢复情况评定疗效.A组:2例操作时有小骨折块部分碎裂,骨折全部愈合,无内固定松动.术后疗效评价优良率96%.B组8例术中出现骨折块固定时不同程度的碎裂,10例克氏针松动,其中4例克氏针退出并针道浅表皮肤感染.3例骨折不愈合.术后疗效评价优良率69%,A、B两组比较有明显差异,P＜0.05.结论 记忆合金抓髌器对髌骨骨折的治疗,尤其是老年人骨质疏松骨折效果确切,较传统方法更具有优越性,可减少手术并发症的发生.     

手术治疗髌骨骨软骨骨折19例疗效观察

目的探讨髌骨骨软骨骨折的手术方法及疗效。方法对2005年7月～2007年8月手术治疗的19例髌骨骨软骨骨折的临床资料进行总结分析。所有病例均先行关节镜检,镜下游离体摘除手术6例,切开复位内固定13例。结果本组19例患者全部得到随访,平均13.2个月〔5个月～23个月〕。根据Lysholm膝关节功能评分标准评价其疗效,术后患者感觉满意,关节功能恢复良好。结论根据髌骨骨软骨骨折块的大小及损伤的时间,采用关节镜检查、镜下手术或切开复位、应用AO微型螺钉处理髌骨骨软骨骨折,疗效满意。