Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.

BACKGROUND: The purpose of this study was to prospectively recruit patients treated with limb malformation and to explore the prevalence and the clinical and epidemiological features of Heart-Hand Syndrome (HHS) in China. METHODS: The consecutive patients treated for congenital upper limb malformation in Beijing Ji Shui Tan Hospital from October 1st, 2016 to October 1st, 2019 were prospectively recruited. We reviewed the patients' medical records and identified patients with abnormal electrocardiogram (ECG) and/or abnormal ultrasonic cardiogram as well as their basic demographic and clinical characteristics. RESULTS: A total 1653 (1053 male and 600 female) patients with congenital upper extremity malformations were prospectively recruited. Among them, 200 (12.1%) had abnormal ultrasonic cardiogram (181patients, 10.9%) and/or abnormal ECG (19 patients, 1.1%). The commonest type of abnormal heart structure was atrial septal defect (69/181 38.1%), and the commonest abnormal ECG was wave patterns (7/19, 36.8%). HHS patients had a higher comorbidity rate (11%) than non-HHS patients (6.9%). Patients with HHS were classified into four groups by the types of congenital upper extremity malformations, among which the most common group was thumb type (121/200, 60.5%). CONCLUSIONS: HHS occurred frequently among patients with congenital upper extremity malformation in China, particularly for those with multiple congenital malformations. The commonest type of hand malformations of HHS patients was thumb malformation.

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.

Holt-Oram syndrome (HOS) is a rare, autosomal dominant disorder caused by heterozygous pathogenic variants in cardiac T-box transcription factor, TBX5. Classically, it is associated with upper limb malformations and variable cardiac abnormalities. Limb manifestations are considered to be invariably present, ranging in severity from limitation in movement, to triphalangeal thumbs, absent thumbs, shortened forearms, or phocomelia. Cardiac involvement is characterized by congenital heart defects, most commonly septal structural malformations, and conduction system disease. Recently, novel TBX5 variants have also been reported in association with dilated cardiomyopathy (DCM). In this context, we report eight individuals from four unrelated families, in whom pathogenic variants in TBX5 segregated with an atypical HOS phenotype. Affected individuals exhibit relatively mild skeletal features of HOS, with a predominant cardiac phenotype, which includes several individuals affected by non-ischaemic DCM. To our knowledge, these represent the first reported cases of DCM in families with skeletal features of HOS, some of whom also harbored variants previously linked to a classical HOS phenotype (p. Arg279* and p.Arg237Gln). This finding supports diverse roles of TBX5 in cardiovascular development and function, and confirms the importance of long-term cardiac surveillance for individuals affected by HOS. Furthermore, these families highlight the wide phenotypic variability of HOS, which may include comparatively mild upper limb findings in respect to cardiac manifestations.

Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report.

Thrombocytopenia absent radius (TAR) syndrome is a rare congenital disorder that is consistently associated with skeletal abnormality and thrombocytopenic haemorrhage. This is a case of a neonate with bilateral absent radius and thrombocytopenia. The rarity of this case prompted this report.

Deficiencia radial longitudinal. Análisis de resultados clínicos y radiológicos / Radial longitudinal deficiency. Analysis of clinical and radiological results

Introducción: La deficiencia radial longitudinal comprende anormalidades óseas, musculotendinosas y neurovasculares de etiología multifactorial del lado radial de la extremidad superior. El tratamiento incluye mejorar la longitud, la apariencia y el funcionamiento de la mano. El objetivo del trabajo es mostrar la experiencia en una serie de pacientes atendidos en los últimos 15 años y describir resultados clínicos y radiológicos. Metodología: Estudio retrospectivo de pacientes con deficiencia radial longitudinal entre 2000 a 2016. Se analizaron variables y se identificaron asociaciones de edad al momento de cirugía, sexo, lateralidad, grado de la deformidad según la clasificación Bayne-Klug modificada, técnica quirúrgica realizada, daño de la fisis, enfermedades asociadas, resultados funcionales y radiológicos. Resultados: Cuarenta y siete casos de 65 cumplían con criterios de inclusión. La edad promedio de la cirugía fue de 19 meses, 61% de sexo femenino. Según la clasificación el tipo IV fue el 60%, el tipo III el 19%, el tipo 0 el 17% y tipo I el 4%. La intervención practicada fue la centralización en el 72,3%, la radialización en el 8,5% y hubo un caso de alargamiento. Se realizó osteotomía de cúbito en el 55,3%. Hubo daño de la fisis en el 31%. La posición radiológica postoperatoria fue neutra en el 48,9%. Conclusiones: En pacientes con centralización a un año se observa una buena corrección clínica y radiológica, sin embargo esta se va perdiendo con el tiempo. El tratamiento de los tejidos blandos previo a la centralización se cree que permite obtener mejores resultados. El uso de clavo intramedular del cúbito al carpo podría estar asociado con daño de fisis del cúbito distal

Introduction: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. Methodology: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. Results: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. Conclusions: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna

Radial longitudinal deficiency. Analysis of clinical and radiological results. / Deficiencia radial longitudinal. Análisis de resultados clínicos y radiológicos.

INTRODUCTION: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. METHODOLOGY: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. RESULTS: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. CONCLUSIONS: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna.

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children.

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. LEVEL OF EVIDENCE: IV.

¿Por qué este niño coge mal los cubiertos? Un caso de sinostosis radiocubital / Why does this child take the cutlery wrong? A case of radioulnar synostosis

La sinostosis radiocubital es una anomalía congénita poco frecuente, a menudo bilateral, que produce una limitación de la supinación del antebrazo. El origen de esta alteración tiene lugar al producirse una detención en la diferenciación de los esbozos cartilaginosos del radio y el cúbito durante el periodo embrionario. Existen diferentes tipos de sinostosis. En muchos casos la clínica es leve, pues compensan su limitación en la pronosupinación con hipermovilidad de las demás articulaciones del miembro superior. La radiografía de miembros superiores es diagnóstica. El tratamiento depende del grado de funcionalidad del antebrazo. Estaría indicado tratamiento quirúrgico si existe una grave deformación en pronación que ocasione graves déficits funcionales. En cualquier otro caso, el manejo será conservador

Radioulnar synostosis is an uncommon congenital anomaly, often bilateral, that produces a limitation of the forearm supination. The origin of this anomaly takes place when a stop is being produced in the differentiation of the cartilaginous outline of the radius and ulna during the embryonic period. There are different types of synostosis. In many cases, the symptoms are mild because it compensates its limitation in pronosupination with hypermobility of other joints of the upper limb. X-ray of upper limbs is diagnostic. The treatment depends on the degree of functionality of the forearm. Surgical treatment would be indicated if there is a severe deformation in pronation that causes serious functional deficits. In any other case, the management will be conservative

Soft-Tissue Distraction Prior to Single Bone Forearm Surgery in Ulnar Longitudinal Deficiency: A Report of Two Cases.

Ulnar longitudinal deficiency (ULD) is a rare congenital disease of the upper limb. The deformities caused by ULD can be very challenging and may compromise hand function during daily activities. Although the first surgical intervention dates back to the year 1952 there is still no gold standard for treating this uncommon disorder. Two children aged 16 and 3 years with ULD Bayne Type II (partial ulna aplasia) were diagnosed and treated at our department with single bone forearm surgery to achieve stability and improve function using a modified surgical method. For the purpose of an additional gain in limb length and improved cosmesis we used an Ilizarov external fixator for soft tissue distraction including radius distalization prior to the creation of the single bone forearm. This new technique and results are presented and discussed.

Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve.

There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. LEVEL OF EVIDENCE: Case series; Level IV.

Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.

BACKGROUND: The purpose of this investigation was to determine the reliability of the Oberg-Manske-Tonkin (OMT) classification system applied to patients enrolled in a prospective, multicenter cohort study of congenital upper limb differences. Our hypothesis was that the OMT classification would exhibit high intraobserver and interobserver reliability and thus would be an appropriate tool for the new Congenital Upper Limb Differences registry. METHODS: Four pediatric hand surgeons independently reviewed the medical records, clinical photographs, and radiographs of 60 randomly selected patients previously enrolled in the Congenital Upper Limb Differences registry. Patient's information was summarized and shared electronically (PowerPoint). Each rater classified each congenital anomaly according to the OMT classification system. Responses were recorded using a web-based data capture tool (REDCap). Three weeks later, the surgeons repeated the process. Intraobserver reliability for each rater was assessed using Fleiss' κ. Interobserver reliability was assessed using percent exact agreement (when all 4 raters were in agreement) as well as Fleiss' κ. RESULTS: Using the OMT classification, intraobserver reliability for the 4 pediatric hand surgeons showed almost perfect agreement, with κ values in the range of 0.89 to 0.93. Interobserver reliability demonstrated substantial agreement, with κ value of 0.79 (95% confidence interval, 0.77-0.82) in the first reading and 0.80 (95% confidence interval, 0.77-0.83) in the second reading. The highest possible agreement (κ=1) was seen for the following diagnoses: congenital dislocation of radial head (OMT I.A.2.v), Madelung deformity (I.A.2.vii), radial polydactyly (I.B.2.iii), triphalangeal thumb (I.B.2.iv), Kirner deformity (I.B.4.vi), and osteochondromatosis (3.B.4.i). CONCLUSIONS: The OMT classification of congenital upper limb differences exhibits substantial to almost perfect intraobserver and interobserver reliability among pediatric hand surgeons at different institutions. The OMT is therefore well-suited for classification of congenital upper limb anomalies in patients enrolled in a multicenter registry. LEVEL OF EVIDENCE: Level II-diagnostic.

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.

We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases. Central nervous system anomaly in the form of enlarged lateral brain ventricles with choroid plexus shifted backwards was not previously reported as a part of SALL4 related disorders. The pregnancy was terminated at 14 + 3 weeks of pregnancy and the autopsy confirmed ultrasonographic findings. Deleted region included 38 genes, where only SALL4, ADNP and KCNB1 heterozygote pathogenic variants were described to be cause of syndromic forms. Radial ray anomalies are common part of clinical picture of SALL4 related disorders. Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. Furthermore, the possible dosage-dependent influence of recessive genes located in this region cannot be also excluded. The use of genome-wide technologies enables the detection of subtle chromosomal imbalances and more precise familial genetic counseling regarding actual and future pregnancies.

Upper Limb Dimelia.

A patient with upper limb dimelia including a double scapula, humerus, radius, and ulna, 11 metacarpals and digits (5 on the superior side, 6 on the inferior side) was treated with a simple amputation of the inferior limb resulting in cosmetic improvement and maintenance of range of motion in the preserved limb. During the amputation, the 2 limbs were found to be anatomically separate except for the ulnar nerve, which, in the superior limb, bifurcated into the sensory branch of radial nerve in the inferior limb, and the brachial artery, which bifurcated into the radial artery. Each case of this rare anomaly requires its own individually carefully planned surgical procedure.

An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification.

PURPOSE: This study attempted to evaluate a series of patients with hereditary multiple exostoses (HME) who could not be categorized according to the widely accepted Masada classification and to identify radiographic variables such as radial bowing, ulnar shortening, ulnar variance, radial articular angle, and carpal slip predictive of deformity. METHODS: We retrospectively reviewed data on 102 upper limbs of 53 pediatric patients with HME. Demographics, site of forearm involvement, and radiographic parameters were documented. Patients with exostoses of the forearms were categorized into 6 groups based on location of the exostoses and presence or absence of a dislocated radial head. Proportional ulnar shortening was calculated as the ratio of ulnar length to radial length. RESULTS: According to the Masada classification, 4 limbs were normal, 10 were type I, 2 were type II, and 24 were type III. Sixty-six limbs were unclassifiable. We classified those 66 limbs using a modification of the Masada classification. Of the 106 limbs, 11 (10.3%) had a dislocated radial head. Based on the radiographic analysis, patients with proportional ulnar shortening of less than 0.9 had a higher risk of radial head dislocation than did those with proportional ulnar shortening of 0.9 or greater. Patients with radial bowing greater than 8.1% showed a higher frequency of radial head dislocation than did those with radial bowing of 8.1% or less. Exostoses of both the distal radius and ulna tended to increase the rate of radial head dislocation. A greater amount of negative ulnar variance caused more radial bowing and a greater radioarticular angle. CONCLUSIONS: We propose a new comprehensive forearm classification for patients with HME. Proportional ulnar shortening less than 0.9 and radial bowing 8.1% or greater can be used to predict the risk of radial head dislocation. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.

OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected. Eighteen cases (35.2%) had defects in the formation of body parts (absence of hand/forearm/digits); 25 cases (49%) had defects in differentiation (contractures, syndactyly), and 8 cases (15.6%) had duplication defects (polydactyly). The specificity of prenatal US for UEM was 96.2%. Ten cases (19.7%) had isolated UEM, and 41 cases (80.3%) had additional anomalies, most of which were cardiac, central nervous system, or facial malformations. Although chromosomal structure in isolated cases was normal in 9 of 10 cases (90%), 15 of 41 cases (36.5%) with multiple defects showed abnormal karyotypes. The chromosomal constituents of nine cases (17.6%) were not available. Although the postnatal outcome of isolated cases was favorable except for the presence of orthopedic problems, complex UEMs with or without abnormal karyotypes were always lethal (97.5%). CONCLUSIONS: UEMs associated with other malformations are usually a sign of underlying severe chromosomal abnormalities, and the prognosis is poor. In contrast, chromosomal structure in isolated cases is normal, and the perinatal and postnatal outcomes are good. In general, US is an effective tool in differentiating fetuses with isolated UEM from those with UEM associated with additional malformations. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:267-276, 2017.