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Amniotic band syndrome can lead to a wide spectrum of congenital abnormalities including orofacial and visceral defects. It is associated with malformations in truncal, craniofacial regions and the limbs, whereas it sometimes may imitate some genetic disorders. Here, we present an atypical case mimicking amniotic band syndrome with a facio‐upper arm band that was having multiple fetal structural abnormalities including scoliosis, bilateral cleft lip and palate, upper limb abnormality, unilateral anophthalmia with contralateral microphthalmia, left hypertrophic kidney and severe ventriculomegaly. [ABSTRACT FROM AUTHOR]

Introduction: There is limited knowledge on the use of 3 D-printed transitional prostheses, as they relate to changes in function and strength. Therefore, the purpose of this study was to identify functional and strength changes after usage of 3 D-printed transitional prostheses for multiple weeks for children with upper-limb differences. Materials and methods: Gross manual dexterity was assessed using the Box and Block Test and wrist strength was measured using a dynamometer. This testing was conducted before and after a period of 24 ± 2.61 weeks of using a 3 D-printed transitional prosthesis. The 11 children (five girls and six boys; 3-15 years of age) who participated in the study, were fitted with a 3 D-printed transitional partial hand (n = 9) or an arm (n = 2) prosthesis. Results: Separate two-way repeated measures ANOVAs were performed to analyze function and strength data. There was a significant hand by time interaction for function, but not for strength. Conclusion and relevance to the study of disability and rehabilitation: The increase in manual gross dexterity suggests that the Cyborg Beast 2 3 D-printed prosthesis can be used as a transitional device to improve function in children with traumatic or congenital upper-limb differences. Implications for Rehabilitation: Children's prosthetic needs are complex due to their small size, rapid growth, and psychosocial development. Advancements in computer-aided design and additive manufacturing offer the possibility of designing and printing transitional prostheses at a very low cost, but there is limited knowledge on the function of this type of devices. The use of 3D printed transitional prostheses may improve manual gross dexterity in children after several weeks of using it. [ABSTRACT FROM AUTHOR]

Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis. [ABSTRACT FROM AUTHOR]

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition. [ABSTRACT FROM AUTHOR]

Introduction: During transition to adulthood young adults with disabilities are at risk of experiencing limitations due to changing physical and social requirements. Purpose: To determine whether young adults with transversal upper limb reduction deficiency (tULRD) have experienced limitations in various domains of participation during transition to adulthood and how they dealt with these limitations. Participants: Fifteen participants (mean age 21.4 years) with tULRD. Methods: A qualitative study was performed using a semi-structured interview based on the Rotterdam Transition Profile to identify the limitations experienced in participation domains. Results: Almost all the participants reported difficulties in finding a suitable study or job. Most young adults were convinced they were suitable for almost any study or job, but their teachers and potential employers were more reserved. Few difficulties were reported on the domains leisure activities, intimate relationships/sexuality, housing/housekeeping and transportation. Participants preferred to develop their own strategies for dealing with limitations. Various aids, adaptations and prostheses were used to overcome limitations. Rehabilitation teams were infrequently consulted for advice in solving transitional problems. Conclusion: Young adults with tULRD experience limitations mainly in choosing and finding a suitable study or job. Rehabilitation teams may play a more extensive role in supporting individuals with transitional problems. [ABSTRACT FROM AUTHOR]

Purpose:To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL. Method:Cross-sectional study comparing HRQoL, measured by SF-36, among adults with UULD and an age- and gender-matched control group from the Norwegian general population (NGP). Results:Seventy-seven respondents, median age 42 years (range: 20–82); 71% were women. Most had left-sided (61%), below elbow (53%), transverse (73%) deficiency. Compared to the NGP, the UULD group reported reduced HRQoL on all SF-36 subscales except for the role emotional (RE) scale (p=0.321), mental health (MH) (p=0.055) and mental component summary (MCS) (p=0.064). The greatest difference was on the bodily pain (BP) scale (point difference of 20.0). Multiple linear regression models showed significant association between several physical- and mental SF-36 subscales and occupational status, occurrence of comorbidity and chronic pain. Conclusions:Persons with UULD reported reduced HRQoL on most SF-36 subscales, mostly in the physical health domain. Employment status, occurrence of comorbidity and chronic pain seem to have a negative impact on the HRQoL. Measures that can reduce pain and loss of function should be given particular attention in UULD rehabilitation.Implications for RehabilitationPersons with congenital unilateral upper limb deficiency (UULD) who experience pain and discomfort should seek professional help for evaluating their everyday coping strategies.Professionals who meet persons with UULD should examine anomalies, comorbidity, pain and employment status before choosing advices and actions.Individually adapted grip-improving devices, environments, physical exercise and pain management programs should be implemented early to reduce pain, loss of function and decreased HRQoL.A multidisciplinary approach is often necessary when counseling persons with UULD. [ABSTRACT FROM PUBLISHER]

Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities. The latter can be structural defects or involve the conduction system. This report details the occurrence of left ventricular non-compaction in multiple family members with Holt-Oram Syndrome. It is recommended that patients with the Holt-Oram Syndrome be considered for comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy as this may have significant prognostic implications. [ABSTRACT FROM AUTHOR]

Background: Arthroplasty is a proven treatment option for glenohumeral osteoarthritis. Common indications include primary or posttraumatic osteoarthritis, avascular necrosis of the humeral head, rotator cuff tear arthropathy and rheumatoid osteoarthritis. Arthroplasty is rarely performed among patients with glenohumeral dysmelia. An overuse of the upper limb in patients with thalidomide-induced phocomelia and people with similar congenital deformities like dysmelia results in premature wear of the shoulder joint. This study aims to evaluate our experience with cases of glenohumeral osteoarthritis caused by dysmelia and treated with arthroplasty. To date, few reports on the outcome of shoulder arthroplasty exist on this particular patient group.Case Presentation: We included four dysmelic patients (five shoulders) with substantial glenoid dysplasia in a prospective database after approval by the local ethics committee. Once conservative treatment options had been exhausted, the patients were treated with shoulder arthroplasty and assessed clinically and radiographically before and after surgery. The mean patient age at the time of surgery was 50.4 years. The minimum follow-up time was 24 months (24-91 months). All patients experienced a considerable improvement of range of motion (ROM) and a relief of pain. No intra- or postoperative complications appeared.Conclusion: Patients with dysmelia have acceptable short and mid-term results with resurfacing hemiarthroplasty. It is an effective although somewhat complicated method to relieve pain and improve movement. Long-term performance of arthroplasty in patients with dysmelia remains to be seen, particularly with regard to the remaining problem of the altered and often deficient glenoid. [ABSTRACT FROM AUTHOR]

Background: There has been a recent interest in the development of body-machine interfaces which allow individuals with motor impairments to control assistive devices using body movements.Methods: In this case study, we report findings in the context of the development of such an interface for a 10-year old child with congenital absence of upper and lower limbs. The interface consisted of 4 wireless inertial measurement units (IMUs), which we used to map movements of the upper body to the position of a cursor on a screen. We examined the learning of a task in which the child had to move the cursor to specified targets on the screen as quickly as possible. In addition, we also determined the robustness of the interface by evaluating the child's performance in two different body postures.Results: We found that the child was not only able to learn the task rapidly, but also showed superior performance when compared to typically developing children in the same age range. Moreover, task performance was comparable for the two different body postures, suggesting that the child was able to control the device in different postures without the need for interface recalibration.Conclusions: These results clearly establish the viability and robustness of the proposed non-invasive body-machine interface for pediatric populations with severe motor limitations. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. [ABSTRACT FROM AUTHOR]

Aims: Children with congenital hemiparesis have unilateral upper extremity involvement, limiting their ability in unilateral or bilateral manual tasks, thus negatively influencing their participation in daily activities. Constraint-induced movement therapy (CIMT) has been shown to be promising for improving upper-limb functions in children with cerebral palsy. Clinical assessments may be needed to quantify and qualify changes in children's performance following its application. Methods: This study investigated the effectiveness of a child-friendly form of CIMT to improve upper extremity functional performance. Thirty congenitally hemiparetic children aged 4-8 years were randomly assigned to receive either a CIMT program (study group) or a conventional non-structured therapy program (control group). The programs were applied for both groups for six hours daily, five days weekly for four successive weeks. The Pediatric Arm Function Test, Quality of Upper Extremity Skills Test, and isokinetic muscular performances of shoulder flexors, extensors, and abductors expressed as peak torque were used to evaluate immediate and long-lasting efficacy of CIMT. Results: The results showed improvement in the involved upper extremity performances in different evaluated tasks immediately post-CIMT program application compared with the control group. These improvements continued three months later. Conclusion: Pediatric CIMT with shaping produced considerable and sustained improvement in the involved upper extremity movements and functions in children with congenital hemiparesis. [ABSTRACT FROM AUTHOR]

We report a case of a 31-year-old pregnant woman who was admitted to our perinatology outpatient clinic because of a fetal ventricular septal defect and limb reduction in the upper extremities of fetus revealed by ultrasonographic investigation diagnosed in the 16th week of gestation. First child of the family was diagnosed with Holt-Oram syndrome who had atrial septal defect and upper limb anomalies, whereas the father was documented to have arrhythmia and shortening of upper limbs. The pregnancy was terminated in the 16th week of gestation with the consent of the family. We performed mutation analysis in T-box transcription factor-5 (TBX5) gene coding exons, including exon/intron boundaries from peripheral blood or skin fibroblasts. The sequence analysis revealed c.241 adenine (A)>thymine (T) [p. arginine (Arg) 81 Tryptophan (Trp)] alteration in exon-3 of the TBX5 gene in affected family members and fetus. This is a novel mutation causing Holt-Oram syndrome. [ABSTRACT FROM AUTHOR]

Congenital upper limb anomalies encompass all band and upper limb anomalies resulting from intra uterine insults , either genetic or environmental. Split-band/split-foot malformation ( SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly , median clefts of the hands and feet , and aplasia and/or hypoplasia of the phalanges , metacarpals , and metatarsals. Cleft-hand sometimes called lobster -claw deformity is a rare anomaly. A case of unilateral congenital malformation of the hand /lobster claw hand ,in an otherwise normal adult male ,is being reported. The embryonic development of the hands and digits is discussed. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 23-year-old white woman who was taken to the hospital at 17-weeks' gestation presented with spontaneous lower extremity bruising and thrombocytopenia. It mentions that she was diagnosed with thrombocytopenia and absent radii (TAR) syndrome and has negative for consanguinity or hematologic disorders. It also mentions that thrombocytopenia occurs in few pregnancies.

Background: Co-contraction is the simultaneous activation of agonist and antagonist muscles that produces forces around a joint. It is unknown if the use of a wrist-driven 3D printed transitional prostheses has any influence on the neuromuscular motor control strategies of the affected hand of children with unilateral upper-limb reduction deficiencies. Thus, the purpose of the current investigation was to examine the coactivation index (CI) of children with congenital upper-limb reduction deficiencies before and after 6 months of using a wrist-driven 3D printed partial hand prosthesis.Methods: Electromyographic activity of wrist flexors and extensors (flexor carpi ulnaris and extensor digitorum) was recorded during maximal voluntary contraction of the affected and non-affected wrists. Co-contraction was calculated using the coactivation index and was expressed as percent activation of antagonist over agonist. Nine children (two girls and seven boys, 6 to 16 years of age) with congenital upper-limb deficiencies participated in this study and were fitted with a wrist-driven 3D printed prosthetic hand. From the nine children, five (two girls and three boys, 7 to 10 years of age) completed a second visit after using the wrist-driven 3D printed partial hand prosthesis for 6 months.Results: Separate two-way repeated measures ANOVAs were performed to analyze the coactivation index and strength data. There was a significant main effect for hand with the affected hand resulting in a higher coactivation index for flexion and extension than the non-affected hand. For wrist flexion there was a significant main effect for time indicating that the affected and non-affected hand had a significantly lower coactivation index after a period of 6 months.Conclusion: The use of a wrist-driven 3D printed hand prosthesis lowered the coactivation index by 70% in children with congenital upper limb reduction deficiencies. This reduction in coactivation and possible improvement in motor control strategies can potentially improve prosthetic rehabilitation outcomes. [ABSTRACT FROM AUTHOR]

Introduction: Essential tremor (ET) is characterized by bilateral upper limb action tremor. Here we review the pathophysiology (cerebral mechanisms) and etiology (genetic and environmental risk factors) of ET.Methods: We reviewed the literature (until June 2017) by searching PubMed for relevant papers.Results: The pathophysiology of ET involves oscillatory activity in the cortico-olivo-cerebello-thalamic circuit, evidenced by electrophysiological and metabolic imaging. Possible underlying mechanisms include GABA-ergic dysfunction, cerebellar neurodegeneration, olivary dysfunction, or a combination. Genetic studies have examined affected ET families (linkage studies and whole-exome sequencing studies). These studies revealed several chromosomal regions and genes associated with ET, but the findings have not been replicated across different ET families. Genetic studies also assessed the sporadic occurrence of ET using genome wide genotyping of single nucleotide polymorphisms (SNP's) and candidate gene studies. Several SNP's are associated with ET, and this has been replicated across different cohorts. Interestingly, some of the involved genes are linked to the cerebellum and inferior olive. Environmental studies point to an association between ET and beta-carboline alkaloids (such as harmane), which have been found in the cerebellum.Conclusion: Genetic and environmental risk factors may influence cerebellar and/or olivary function, resulting in abnormal cortico-olivo-cerebello-thalamic activity, and ultimately ET. [ABSTRACT FROM AUTHOR]