Congenital Transverse Deficiency Research Articles

Patient-reported function, quality of life and prosthesis wear in adults born with one hand: a national cohort study.

We invited individuals aged above 16 years with a congenital transverse reduction deficiency at and above the wrist born in Norway between 1970 and 2006 to complete the short version of the Disabilities of the Arm, Shoulder and Hand Outcome Measure, the 5-Level EuroQoL-5-Dimension instrument, the RAND 36-Item Short Form Health Survey and a single-item questionnaire on arm function, appearance, pain and prosthesis wear. Of 154 eligible participants, 58 (38%) responded. Their scores were not different from the general population. All had been offered prostheses, and 56 (97%) had been fitted at a median age of 1 year (interquartile range 0-2.8). Of the participants, 37 (64%) were still prosthesis wearers, while 21 (36%) were non-wearers or using gripping devices only. Prosthesis wearers had higher levels of 'vitality' as assessed by the RAND-36 and rated their arm appearance higher, but there were no other score differences, indicating that prosthesis rejection is not associated with worse functional outcomes.Level of evidence: III.

Prenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review.

Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%. They can occur alone or represent a manifestation of a various clinical syndromes. Diagnosis has traditionally comprised of conventional radiography and prenatal imaging studies. There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment. To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies. This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly. Five search engines were searched for a total of 265 publications. Four authors reviewed these during the screening process. Of these, 51 studies were included in our article. Prenatal magnetic resonance imaging (MRI), 3D Ultrasound, and multidetector Computed tomography (CT) exist are emerging modalities that have the potential to improve diagnosis. Use of the appropriate classification system, three-dimensional ultrasonography with a maximum intensity projection, and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication. Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.

Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports

BackgroundTransverse congenital limb deficiency is a common limb deficiency where there is normal limb development until a certain point, beyond which no anatomical structure exists. Typically, this presents as an isolated and spontaneous abnormality as a result of arrest during limb bud development. Transverse bilateral deficiency in both upper and lower limbs is not well described.Case presentationWe report the cases of two female Ethiopian amhara siblings, aged 6 years and 5 months, respectively, from Ethiopia with similar transverse bilateral upper and lower limb deficiencies. The sisters were born from the same parents and have similar phenotypic presentations. Neither of them have other syndromic features or systemic manifestations. The siblings are currently on follow-up and are receiving assistance by specialist orthotists, who are working to improve walking and also providing adaptive equipment to facilitate self-care and feeding.ConclusionThe relationship of the patients and the similarity of phenotypical presentations suggests a strong genetic link.

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.

Proximal focal femoral deficiency is a congenital transverse deficiency in which the femur is globally smaller with a typical proximal deformity at the hip that may include distal involvement of knees, leg, and feet. Congenital femoral deficiency (CFD) describes a broader spectrum of longitudinal deficiency inclusive of proximal focal femoral deficiency. CFD may also include lateral distal femoral hypoplasia, knee cruciate ligament deficiency, rotational instability, patellar dislocation, fibular hemimelia, ray absence, and contralateral limb involvement. Treatment intends to maximize function by limb equalization and deformity correction ranging from nonsurgical management using prosthetics to amputation and may include lengthening, shortening, and complex limb reconstruction. Management decisions depend on overall severity and the patient and family's preferences and priorities. Owing to its complexity, CFD is best treated by clinicians with considerable deformity treatment experience who can help guide decision making and embark on a treatment course that will maximize the functional outcome.

A neonate with peromelia: congenital transverse deficiency of an upper limb

A neonate with peromelia: congenital transverse deficiency of an upper limb

High-density surface electromyography maps after computer-aided training in individual with congenital transverse deficiency: a case study

BackgroundThe aim of this study was to determine whether computer-aided training (CAT) of motor tasks would increase muscle activity and change its spatial distribution in a patient with a bilateral upper-limb congenital transverse deficiency. We believe that our study makes a significant contribution to the literature because it demonstrates the usefulness of CAT in promoting the neuromuscular adaptation in people with congenital limb deficiencies and altered body image.Case presentationThe patient with bilateral upper-limb congenital transverse deficiency and the healthy control subject performed 12 weeks of the CAT. The subject’s task was to imagine reaching and grasping a book with the hand. Subjects were provided a visual animation of that movement and sensory feedback to facilitate the mental engagement to accomplish the task. High-density electromyography (HD-EMG; 64-electrode) were collected from the trapezius muscle during a shrug isometric contraction before and after 4, 8, 12 weeks of the training. After training, we observed in our patient changes in the spatial distribution of the activation, and the increased average intensity of the EMG maps and maximal force.ConclusionsThese results, although from only one patient, suggest that mental training supported by computer-generated visual and sensory stimuli leads to beneficial changes in muscle strength and activity. The increased muscle activation and changed spatial distribution of the EMG activity after mental training may indicate the training-induced functional plasticity of the motor activation strategy within the trapezius muscle in individual with bilateral upper-limb congenital transverse deficiency. Marked changes in spatial distribution during the submaximal contraction in the patient after training could be associated with changes of the neural drive to the muscle, which corresponds with specific (unfamiliar for patient) motor task.These findings are relevant to neuromuscular functional rehabilitation in patients with a bilateral upper-limb congenital transverse deficiency especially before and after upper limb transplantation and to development of the EMG based prostheses.

Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan

BackgroundCongenital limb deficiency is a rare anomaly that impairs limb function. Transverse deficiency accounts for approximately half of congenital limb deficiency cases. In Japan, there have been no detailed data of clinical features, especially treatment approaches, of this disorder. The present study aimed to investigate the status of treatment approaches of congenital transverse limb deficiency in Japan. MethodsFrom the national epidemiological survey of congenital limb deficiency undertaken in Japan in 2016, all the data of 200 patients with congenital transverse limb deficiencies were extracted. These data were analysed to reveal the treatment approaches of congenital transverse limb deficiency and its basic clinical features. ResultsSurgical treatments and prosthetic or orthotic intervention had been implemented or planned for about one-quarter of patients, respectively. In the upper limb deficiencies, prosthetic or orthotic intervention was likely chosen in cases of deficiency at the metacarpal or proximal to metacarpal level. Surgical treatment was chosen only in cases of deficiency at the carpal or distal to carpal level. Although the number of patients with transverse lower limb deficiencies was small, prosthetic or orthotic intervention was likely chosen in proximal deficiencies, and surgical treatment was likely chosen in distal deficiencies. ConclusionsHerein, we revealed the status of treatment approaches for congenital transverse limb deficiency in Japan. Approximately half of the patients had no history of—and no plans for—surgical, prosthetic, or orthotic interventions. Further treatment advances may enable patients with congenital limb deficiencies to increase their participation in daily activities. Study DesignCross-sectional survey.

Peromelia - congenital transverse deficiency of the upper limb: a literature review and current prosthetic treatment.

Peromelia or congenital transverse deficiency describes a truncation of the upper limb below various limb levels. Recommendations regarding treatment vary and are mainly based on expert opinions. This paper summarizes the current literature regarding the aetiology, pathogenesis and specifically treatment algorithms for children with peromelia. We performed a non-systematic review of the current literature from MEDLINE/PubMed to obtain comprehensive up-to-date information about peromelia, focusing on current recommendations for the treatment of peromelia (e.g. prosthetic fitting, external stump lengthening). The current literature lacks clear evidence as to whether prosthetic treatment is superior to prosthetic non-usage. However, based on the available studies, children with transradial or transhumeral peromelia should preferably be fitted with passive/cosmetic prostheses at the age between six and 24 months, followed by active/myoelectric devices at the age of 2.5 to four years. It remains controversial whether early myoelectric prosthetic fitting can reduce prosthesis rejection times; however, cognitive readiness and the ability to absolve a guided training programme are seen as important prerequisites for myoelectric fitting. Children with very short stumps may benefit from stump lengthening using external fixators and prosthetic modification. The treatment of children with peromelia generally requires a guided, multidisciplinary team approach. A training programme is essential to optimize individuals’ performance in the execution of activities of daily living and decrease rejection risks whenever a myoelectric device is prescribed. Myoelectric fitting should preferably be commenced at no later than four years of age. However, long-term reports on the benefits of prosthetic treatment are still pending.

Transverse terminal upper limb deficiency through the arm: The problem and management

Transverse terminal deficiencies of the arm differ from transhumerus amputations. Whereas transverse limb deficiency is due to congenital causes transhumerus amputation are usually acquired. The paper deals with a congenital transverse limb deficiency at the mid-arm level which presented to us with pain in the amputation stump with a projection of bone through the skin.

Computer-aided training sensorimotor cortex functions in humans before the upper limb transplantation using virtual reality and sensory feedback

One of the biggest problems of upper limb transplantation is lack of certainty as to whether a patient will be able to control voluntary movements of transplanted hands. Based on findings of the recent research on brain cortex plasticity, a premise can be drawn that mental training supported with visual and sensory feedback can cause structural and functional reorganization of the sensorimotor cortex, which leads to recovery of function associated with the control of movements performed by the upper limbs. In this study, authors – based on the above observations – propose the computer-aided training (CAT) system, which generating visual and sensory stimuli, should enhance the effectiveness of mental training applied to humans before upper limb transplantation. The basis for the concept of computer-aided training system is a virtual hand whose reaching and grasping movements the trained patient can observe on the VR headset screen (visual feedback) and whose contact with virtual objects the patient can feel as a touch (sensory feedback). The computer training system is composed of three main components: (1) the system generating 3D virtual world in which the patient sees the virtual limb from the perspective as if it were his/her own hand; (2) sensory feedback transforming information about the interaction of the virtual hand with the grasped object into mechanical vibration; (3) the therapist's panel for controlling the training course. Results of the case study demonstrate that mental training supported with visual and sensory stimuli generated by the computer system leads to a beneficial change of the brain activity related to motor control of the reaching in the patient with bilateral upper limb congenital transverse deficiency.

Progressive lengthening of short congenital forearm stump in children for prosthetic fitting.

The sufficient length of congenital forearm stump is essential for prosthetic fitting. In our study we reviewed the results of a series of forearm stump lengthening, observed complications and their outcomes. We evaluated possibilities of combined technique to reduce or avoid problems and complications in forearm stump lengthening. We retrospectively reviewed 18 children who have undergone forearm stump lengthening. In all patients the forearm lengthening was performed by means of Ilizarov frame. Additional flexible intramedullary nailing (FIN) was applied in two cases. The mean lengthening gain was 4.6 cm. The planned lengthening gain was obtained in all cases. The mean healing index (HI) was 34.1 days/cm. The most reduced HI was observed in two cases of combined technique (Ilizarov frame with FIN): 25.4 and 27.0 days/cm. Considering complications and outcomes the results were classified according to Lascombes: grade I--5 cases, IIa--10 cases, IIb--2 cases, IIIa--1 case. In the long term follow-up all patients used their prostheses fixed at the forearm stump with natural function of elbow joint. Forearm progressive lengthening in children with congenital transverse deficiency of the forearm is justified in order to facilitate prosthetic procedures and to preserve natural function of elbow joint. Sufficient lengthening can be achieved within one operation with a low rate of major complications. In our experience a repeated lengthening of forearm stump is not mandatory.

Use of an Iliac Crest Growth Plate for the Development of a Neo-articulation for Congenital Transverse Deficiencies at the Wrist

Terminal congenital transverse deficiencies of the wrist and hand are rare malformations. They are usually treated with prosthetic devices. We describe here a surgical technique to create a neo-articulation that could provide mobility distal to the forearm and help children with terminal transverse deficiencies use orthotic devices. This procedure involved an autologous, nonvascularized graft from the immature iliac crest. The graft was placed with its cartilaginous side facing the radial and ulnar articular surfaces. We studied the clinical, radiological, and functional outcomes of this technique in 2 pediatric cases 5 and 14 years after this procedure. The x-rays showed a mobile graft distally in the forearm. Magnetic resonance imaging showed a space between the graft and the radius and an intermediate signal on either side of the space highly suggestive of articular cartilage. These various elements were organized into a neo-articulation between the forearm and the graft. The functional ability at follow-up was greater compared with the absence of a graft. The results of basic research work on cartilage and chondrocytes may help explain the presence of persistent cartilaginous tissue on the articulated part of the graft. The good functional outcome provided by our surgical procedure may translate into reduced need for prosthesis acceptance. Our surgical procedure does not restore limb length, but does add a new functional ability. Therapeutic IV.

P22.12: Antenatal diagnosis of amniotic band syndrome-case report

Amniotic band syndrome is a set of congenital birth defects believed to be caused by the entrapment of the fetal parts in fibrous bands in utero. Disunion, deformation, malformation, clefts and constriction bands and amputation of various parts of the body could be seen. It can affect any organ or system and cause a single or multiple defects. We report 6 cases of amniotic band syndrome in the second and trimester of pregnancy. It includes multiple fetal defects. It ranges from hand anomalies, ectopia cordis, congenital transverse deficiency, cleft lip cleft palate, facial cleft. Two cases of ectopia cordis with facial anomalies. 2 cases of isolated limb anomaly includes congenital transverse deficiency, 1 case of multiple limb anomalies and 1 for multiple anomalies including limb, abdominal wall defect, spinal defect, encephalocele and facial anomaly. In our study, the earliest case we diagnose is at 15 weeks. Mean age of the patient is 24 years. Amniotic band syndrome caused a variety of fetal malformations involving limbs, craniofacial region and trunk. It occurs in approximately 1 in 1200 to 1 in 15,000 live births. Occurrence is mostly sporadic. In our case, all are from low risk group. 3D & 4D ultrasound shows multiple amniotic bands floating in the amniotic cavity with 1 of them attached to the fetal part.

An Assessment of the Relationship Between Congenital Transverse Deficiency of the Forearm and Symbrachydactyly

A relationship between symbrachydactyly and transverse deficiency has been suggested but has not been critically investigated or established by scientific studies. The purpose of this investigation was to evaluate a large group of patients with transverse deficiency of the forearm for clinical and radiologic features typically seen in patients with symbrachydactyly. A retrospective review of the medical records of 291 patients with a diagnosis of upper-extremity transverse deficiency at the level of the forearm was performed. Patient charts, photographs, and radiographs were evaluated for manifestations of symbrachydactyly; specifically, we clinically assessed for the presence of nubbins and skin invaginations and radiologically assessed for hypoplasia of the proximal radius and ulna. Two hundred seven patients had soft tissue nubbins at the end of their amputation stumps including 38 with the additional finding of skin invagination at the distal end. Another 36 extremities had a skin invagination alone. Twenty-nine of the extremities without nubbins or skin invaginations had hypoplasia of the proximal radius and ulna. Thus, 272 of the 291 extremities with transverse deficiency had manifestations of symbrachydactyly. The majority of patients with the diagnosis of transverse deficiency have soft tissue nubbins, skin invaginations, or hypoplasia of the proximal radius and ulna at the end of their amputation stumps. These clinical and radiologic features support the concept that transverse deficiency through the forearm represents a proximal continuum of symbrachydactyly.

Evaluation of arm and prosthetic functioning in children with a congenital transverse reduction deficiency of the upper limb

To assess upper extremity functioning of children with unilateral transverse upper limb reduction deficiency, using standardized instruments, and to investigate their validity and reliability. Cross-sectional study. Twenty subjects aged 4-12 years; 9 prosthetic users and 11 non-users. The Assisting Hand Assessment, Unilateral Below Elbow Test, Prosthetic Upper extremity Functional Index and ABILHAND-Kids were assessed in all children. Users were tested with and without their prosthesis. We compared results of users and non-users, and of users with and without their prosthesis. Validity was determined by testing hypotheses and correlations with other measures. Test-retest reliability was assessed from repeated measurements in 10 children. Children with an upper limb reduction deficiency performed well on daily activities. They could use their prosthesis in 68% of the activities, but were currently using it in only 30%. Children find their prosthesis useful for specific activities, rather than for daily activities in general. The Assisting Hand Assessment and Prosthetic Upper extremity Functional Index showed best validity; test-retest reliability was good to excellent. The use of standardized instruments adds relevant information on functioning of children with an upper limb reduction deficiency. We found additional support for validity and reliability of, in particular, the Assisting Hand Assessment and Prosthetic Upper extremity Functional Index.

Modified axillary crutches for an adolescent with bilateral congenital transverse deficiencies of the radius and ulna and no hands

This report describes the construction of modified axillary crutches for a patient who had bilateral congenital transverse incomplete deficiencies of the radius and ulna and no hands. Before physical herapy, the patient underwent a left pangeniculate percutaneous epiphysiodesis of the distal femoral and proximal tibial physis, causing him to be temporarily non-weight-bearing on the left lower extremity. The patient lacked both hands; therefore, he was unable to use crutches. Traditional axillary crutches were modified with permanent bilateral casts at the axilla/arm region to facilitate use by the patient. Using the modified axillary crutches, he ambulated independently and climbed and descended stairs with contact guard assist, while maintaining the non-weight-bearing status of the left lower extremity.