Bilateral congenital deficiency of tibia: a case report.

INTRODUCTION: Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability. OBSERVATION: A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised. DISCUSSION AND CONCLUSION: We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.

[Clubfoot associated with tibial and fibular hemimelia]. / Der Klumpfuß bei tibialer und fibularer Hemimelie.

AIM: Clubfoot is rarely associated with tibial or fibular hemimelia. Treatment is complex and in most of the cases extensive surgery is required. At present experience with Ponseti casting is limited. We describe casting and surgical treatment of 10 clubfeet associated with tibial and fibular hemimelia. MATERIAL AND METHOD: Between 1.1.2004 and 31.12.2009 398 clubfeet were treated with casting in our institution. In the same period 10 clubfeet were associated with fibular or tibial hemimelia. Treatment started in 9 clubfeet with Ponseti manipulation and casting. We used the classification of Weber for tibial hemimelia and the Kalamchi-Achterman classification and Paley classification for fibular hemimelia. Data of all patients were prospectively documented and the result of the foot deformity was evaluated before a first lengthening procedure. Documentation included patient data, associated foot pathologies, surgical procedures, functional results. Functional results were evaluated before the first lengthening procedure started. RESULTS: Three patients had tibial hemimelia, two Weber type 1, one Weber type 2, one Weber type 3. five patients had fibular hemimelia, Paley type IV or Kalamchi-Achterman Type IA. One child had bilateral fibular hemimelia. The prospective leg length discrepancy ranged from 3.2 cm to 14 cm. Four feet had initially a successful treatment with casting. In a type 2 according to Weber we performed an ankle reconstruction procedure to correct tibiofibular diastases. Four feet underwent PMR. We had four relapses. Two equinus relapses were treated with a posterior release. Two severe relapses were finally corrected with resection of the coalition and midfoot osteotomies. In a Weber type 3 case a complex reconstruction was performed using an Ilisarov and a TSF frame. Functional results showed in a mean follow-up of 42.2 months (24-72 months) a dorsiflexion between 5 and 20° (Ø 7.7°) and a plantarflexion between 10 and 40° (Ø 26.1°). CONCLUSION: Treatment of clubfoot associated with tibial or fibular hemimelia with the Ponseti technique is limited because of complex hindfoot deformities including tarsal coalitions. Nevertheless treatment after birth starts with casting. Only mild cases of hemimelia without coalition can be corrected with the Ponseti technique. In a case of tibiofibular diastasis successful casting is possible, but extensive surgery is often necessary. In more severe cases we do not recommend casting. In these cases surgical treatment, including posteromedial release, osteotomies for the hindfoot, resection of coalitions or complex osteotomies with Ilisarov or TSF frame is the treatment of choice.

Adaptive toothbrush handle: case report of a Thalidomide patient.

Thalidomide poisoning can result in malformation of limbs, specifically upper limbs, compromising manual dexterity. Although Thalidomide has long since been withdrawn for use in pregnant patients, its affects on those exposed pose significant challenges for patients' oral hygiene maintenance. This case reports a novel technique of adaptation to facilitate a Thalidomide poisoned patient in maintenance of oral hygiene via an adaptive toothbrush handle.

The long-term function of the knee in patients with fibular hemimelia and anterior cruciate ligament deficiency.

Most patients (95%) with fibular hemimelia have an absent anterior cruciate ligament (ACL). The purpose of this study was to assess the long-term outcome of such patients with respect to pain and knee function. We performed a retrospective review of patients with fibular hemimelia and associated ACL deficiency previously treated at our institution. Of a possible 66 patients, 23 were sent the Musculoskeletal Outcomes Data Evaluation and Management System (MODEMS) questionnaire and Lysholm knee score to complete. In all, 11 patients completed the MODEMS and nine completed the Lysholm score questionnaire. Their mean age was 37 years (27 to 57) at review. Five patients had undergone an ipsilateral Symes amputation. There was no significant difference in any subsections of the Short-Form 36 scores of our patients compared with age-matched controls. The mean Lysholm knee score was 90.2 (82 to 100). A slight limp was reported in six patients. No patients had episodes of locking of the knee or required a supportive device for walking. Four had occasional instability with sporting activities. These results suggest that patients with fibular hemimelia and ACL deficiency can live active lives with a similar health status to age-matched controls.

Experiences of parents of children with congenital limb differences with health care providers: a qualitative study.

UNLABELLED: This article describes a qualitative, participatory action research study based in grounded theory, in which an online survey was developed and utilized to explore and generate suggestions for further research about the needs and health care experiences of parents of children with congenital limb differences (CLD) during the first year of the child's life. PARTICIPANTS: Fifty parents completed an online survey that was developed through review of themes in the literature and input from people with CLD and their families. Primarily with open-ended questions, the survey targeted the respondents' perceptions of the attitudes and approaches of health care providers. RESULTS AND DISCUSSION: Results indicate that parents consistently commented on three main areas of interaction with health care providers: attitudes, information, and emotional or psychological support. Research hypotheses generated from the data are presented. Implications and suggestions for future directions are discussed.

[Prosthesis use in pediatric patients with fibular hipoplasia]. / Adaptabilidad protésica en pacientes pediátricos con hipoplasia peronea.

OBJECTIVE: To assess the prosthesis adaptability at use of pedestal and transtibial prosthesis, recognize the average average age of amputation surgery, and the complications of the amputation in patients with fibular hemimelia. MATERIAL AND METHODS: 47 patients were evaluated, initially to adjust pedestal prosthesis and when this was not tolerated, we realize amputation and adaptation of transtibial prosthesis, we valued the average age of amputation surgery, the associate complications and the prosthesis adaptability we use the K system for functional ambulation. RESULTS: Of the 12 patients to actually use pedestal prosthesis 9 (75%) had a K.2 level, 3 (25%) had a K-3 level, of the 35 patients to use transtibial prosthesis 1 (3%) had a K-2 level, 19 (54%) K-3 level, and 15 (43%) in the K-4 level. The average age to amputation surgery was 3.9 years old, one case had a complication. DISCUSSION: The early prosthesis adaptability provides advantages in the functional ambulation, as demonstrated on the results. The goal of the transtibial amputation is to facilitate the prosthesis adaptability, is due to take advantage of the best functional adaptation the child in the first years of life, circumstance that improves the integral rehabilitation of the patient.

Limb deficiency and prosthetic management. 1. Decision making in prosthetic prescription and management.

UNLABELLED: This self-directed learning module highlights decision making in prosthetic management in pediatric and adult patients. This chapter reviews classification of congenital limb deficiency and management of congenital pediatric upper-extremity amputees. Differences in management of amputees of various ages from infancy to old age is discussed. Case examples are used to formulate prosthetic prescriptions for transradial limb deficiency as well as knee disarticulation and transtibial level amputations. Common prosthetic gait deviations and anticipated functional levels are evaluated. OVERALL ARTICLE OBJECTIVE: To discuss prosthetic prescription and management in congenital limb deficiency and acquired amputations for patients of various ages.

Therapy in unilateral sirenomelia: report of one case.

A 17-month-old male infant was referred to us with a unilateral sirenoid malformation in 1970. Besides urogenital and lumbosacral vertebral defects, the right knee was flexed 160 degrees, and the hip externally rotated and abducted. The thigh and calf were connected by a soft tissue bridge with the heel fixed to the ischial region. Arteriography showed that the foot and lower leg were supplied by the profunda femoris artery through the soft tissue bridge. The lower leg had only a very small supply from the popliteal artery. Therefore, an amputation by disarticulation at the knee joint was performed. A few months later, in addition, the hip flexion contracture was released. The boy was taught to walk with a prosthesis. At the age of 31 years, he has a sedentary job and is more troubled by his urogenital than his orthopaedic defects. He prefers to walk with crutches and for a few years has no longer used his prosthesis.

[Holt-Oram syndrome. 3 case reports and their physical therapy, occupational therapy and technical orthopedic treatment]. / Das Holt-Oram-Syndrom. Drei Fallbeispiele und deren krankengymnastische, ergotherapeutische und orthopädie-technische Behandlung.

The combination of organ and skeletal malformation as well as the fact that Holt-Oram syndrome appears in many forms with related functional disturbances and makes it mandatory that the therapy for these patients be determined on an individual basis. Supportive statomotoric therapy of young patients plays a particularly central role, as do development-synchronized treatment aids. Physiotherapy, ergotherapy, and technical orthopedic support oriented toward functionality are all part of the therapeutic concept.

Predictors of parental distress after congenital disabilities.

This study investigated the relationship between child functional independence, family dynamics, psychosocial factors, and level of distress in parents of children with congenital disabilities. The Vineland Adaptive Behavior Scales, the Family Assessment Device (FAD), and the Brief Symptom Inventory (BSI) were administered to 60 parents of children with cerebral palsy, 34 parents of children with spina bifida, and 27 parents of children with limb deficiencies. Stepwise multiple regression analyses indicated that the Roles scale from the FAD and the presence of a significant new psychosocial stressor within the previous 6 months were statistically significant predictors of the level of parental distress as assessed by the BSI. Exploration of the extent to which families have adaptive distributions of responsibilities for dealing with domestic tasks, as well as with unrelated life stressors, may be helpful in identifying those parents of children with congenital disabilities who are at risk for distress.

[Rehabilitation program for children and adolescents with limb defects or amputations of the lower extremity]. / Das Rehabilitationsprogramm bei Kindern und Jugendlichen mit Gliedmassenfehlbildungen oder Amputationen der unteren Extremität.

In rehabilitation of children and adolescents with lower limb deficiencies it is very important that the medical team taking care of the patient works out a treatment plan. Responsible cooperation with the parents is of utmost importance, the focus of all efforts is, of course, the handicapped child. The aims of rehabilitation are illustrated by examples demonstrating the course of successful rehabilitation of children and adolescents with damaged limbs. Equally, the psychological situation of the parents and child is taken into consideration. Children with limb deficiencies or amputation of the lower extremities should be enabled to stand and walk according to their state of development, because standing and walking in particular are among the most important preconditions for the best possible integration. Provision with a prosthesis, orthosis and orthoprosthesis is therefore indispensable for rehabilitation. While a prosthesis replaces parts of an extremity, an orthosis stabilizes the existing extremity. Orthoprostheses compensate longitudinal malformations, have a supporting effect, allow growth to be controlled, and compensate for shortening. Just as important as these technical aids is early medical treatment. The sooner the treatment starts, the better the results.

Helping to solve problems associated with spina bifida: 1. Presentation of the TRS Project: organizing services for low frequency diagnostic groups and 2. Cognitive deficits often seen in young adults with spina bifida: effects in the school and work place.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

[Foot deformities in longitudinal ectromelia of the lower limbs]. / Les anomalies du pied dans les ectromélies longitudinales des membres inférieurs.

We have studied 204 feet in 181 children with congenital limb shortening. There were 17 short femurs in 11 children in whom it was impossible to lengthen the leg. Thirteen feet were abnormal. It was necessary to adapt the foot to fit the chosen prosthesis. In 34 children it was possible to correct the length of the short femur. In 21 the feet were normal. 13 had abnormal feet associated with fibular aplasia and deformities included equinovalgus, hind foot synostosis, and deficient rays. In 72 children with congenital hypoplasia or aplasia of the fibula, 76 feet were affected. The function of the foot depends on attaining a stable position beneath the tibia. In 34 children (35 feet), the feet were in a stable position. There were 22 ball and socket ankle joints. Before carrying out leg lengthening, operation was necessary on 9 feet, and a further 13 required operation after lengthening had been carried out. In 34 children (41 feet) there was fibular aplasia. The feet lay in equinovalgus and were often narrow. Only 5 did not have a degree of synostosis. Twenty-three feet in twenty two children were operated on with early soft tissue release, tendon transfer and tibiotalar arthrodesis. This is our treatment of choice. Twenty-seven children had tibial dysplasia which affected 37 feet. The feet lay in equinovarus and in 5 there was partial diplopodia. In the absence of a tibia (19 feet) disarticulation of the knee was carried out. In 12 there was proximal shortening of the tibia which in 9 cases was treated by tibiofibular union. It was possible to retain only 2 feet in a proper position in a lengthened leg. In 30 children (33 feet) both fibular and tibial hypoplasia was present. The feet functioned well. There were 22 ball and socket ankles, 28 narrow feet and numerous synostoses. In limbs with atypical dysplasia 7 abnormal feet were noted. If it is possible to preserve or lengthen the limb it is vital that the foot is retained in a stable position beneath the tibia in order that satisfactory function be obtained. If limb lengthening is impossible, the foot must be adapted to match the prosthesis.

Successful voluntary grasp and release using the cookie crusher myoelectric hand in 2-year-olds.

We examined the ability of two 2-year-old children with limb deficiency to demonstrate grasp and release while using the cable-operated voluntary opening hook-hand and the externally powered single-site myoelectric Cookie Crusher system. The Cookie Crusher circuit is an electronic package that causes the prosthetic hand to open in response to muscle contraction and closes (as if crushing a cookie) when the muscle is relaxed. Both children were consistently good prosthetic wearers, beginning with their initial passive devices and progressing through their cable-operated hooks and hands. However, before they began to use the Cookie Crusher (Subject 1 at 25 months, Subject 2 at 30 months), neither had developed voluntary grasp or release in spite of 3 to 12 months' use of cable-operated voluntary opening prehensors. Both children developed a voluntary grasp and release for the first time within minutes of starting to use the Cookie Crusher. The more adept of the two children, a girl with a traumatic above-elbow amputation, showed prehensile function with the Cookie Crusher during play. The spontaneous use of the Cookie Crusher may be related to the predominance of associated reactions in young children. As children play bimanually, associated movements of the nondominant extremity often occur and, in the case of children with limb deficiencies fitted with Cookie Crusher prehensors, these associated reactions result in successful grasp and release. We will continue to follow the choice of effective control schemes in these children as they mature.

[Independence within reach. Ergotherapy treatment of children with a congenital reduction defect]. / Zelfstandigheid binnen handbereik. Ergotherapiebehandeling van kinderen met een congenitaal reductiedefect.

The occupational therapy department of the University Hospital of Leiden treats a relatively large number of children, born with a dysmelia of the forearm. This article has been written to give information about the possibilities to supply these children with a prosthesis, and how this effects their level of independence. A short description of occupational therapy and the working of a myoelectric prosthesis will be followed by a case-study of a boy with plural congenital reduction defects. He needs several prosthesis and aids to become (mainly) independent of the help from others. It will be described how aids are made and tested, and how the prosthesis is used. The case-study illustrates that the different demands and desires which are demanded from prosthesis and aids, are related to the age and developmental level of the child.

Physiatric management of two neonates with limb deficiencies and prenatal cocaine exposure.

We evaluated two neonates born within nine weeks of each other who had limb malformations and whose urine toxicology screenings were positive for cocaine metabolites and other drugs. Review of the literature indicates that fetal exposure to cocaine could lead to limb reduction deficits. The purpose of this report is to alert the physiatrist to a possible increase in incidence of limb malformation related to maternal cocaine use during pregnancy. The two cases are detailed, etiology is discussed, and the initial physiatric management is explained.