Outcomes of Simultaneous Lengthening and ACL Reconstruction in Fibular Hemimelia: A Retrospective Case Series.

Background: Fibular hemimelia is the most common congenital long bone deficiency. It is often associated with femoral and tibial deficiencies which result in a clinically evident leg length discrepancy. The primary soft tissue concern is ACL/PCL deficiency. If treatment includes bony lengthening, joint stability is imperative to avoid complications. In this study, we detail a novel technique for long bone lengthening and ACL reconstruction in a single, cohesive surgery. This consolidates the need for multiple procedures and offers improved limb length symmetry and knee stability for this patient population. Clinical outcomes of pediatric patients with hemimelia who underwent either femoral or tibial lengthening with PRECICE® nail and concomitant ACL reconstruction are presented. Methods: After IRB approval, we identified five patients with complex fibular hemimelia who underwent ACL reconstruction and concomitant lengthening with at least two years of follow-up. Two patients (40%) presented with congenital short femur, and three (60%) with congenital short tibia. In each case, ACL reconstruction and either femoral or tibial guided growth via PRECICE® nail were performed. Operative techniques involving both soft tissue and bony methodology are described in detail. Results: All patients had objective improvement in knee stability as assessed both intra and post operatively, as well as successful intermedullary lengthening without complications related to joint stability. Three patients had minor complications unrelated to joint stability that did not interfere with overall result. Conclusion: Fibular hemimelia associated with hypoplasia of bony and soft tissue structures can be successfully addressed with concomitant ligamentous reconstruction at the time of implantation of lengthening devices. This addresses knee instability and reduces both number of operative procedures and potential complications related to joint instability while pursuing bony lengthening. Level of Evidence: V.

BONE RECONSTRUCTION IN THE TREATMENT OF TIBIAL HEMIMELIA: AN ALTERNATIVE TO AMPUTATION?

Objective: To evaluate the advantages and disadvantages of bone reconstruction and lengthening compared to amputation in the treatment of tibial hemimelia for patients and their families. Methods: Systematic review of articles published in English and Portuguese between 1982 and 2022 in the MEDLINE, PubMed, Cochrane and SciELO databases. The variables of interest were: year of publication, sample characteristics, classification of tibial hemimelia according to Jones, treatment outcome and follow-up time. Results: A total of eleven articles were included in the scope of this review. The studies involved 131 patients, 53.4% male and 46.6% female. The age of the patients who underwent a surgical procedure ranged from 1 year and 10 months to 15 years. The most common type was Jones' I (40.9%). The most recurrent complications in the reconstruction treatment were: infection of the external fixator path, flexion contracture (mainly of the knee), reduction in the range of motion of the knee and ankle. Conclusion: We did not find enough relevant studies in the literature to prove the superiority of reconstruction. Amputation remains the gold standard treatment for tibial hemimelia to this day. Level of Evidence III, systematic review of level III studies.

Objetivo: Avaliar as vantagens e desvantagens da reconstrução óssea e alongamento comparada à amputação no tratamento da hemimelia tibial para pacientes e familiares. Métodos: Revisão sistemática, com análise de artigos publicados nas línguas inglesa e portuguesa entre 1982 e 2022, nas bases de dados MEDLINE, PubMed, Cochrane e SciELO. As variáveis de interesse foram: ano de publicação, característica da amostra, classificação da hemimelia tibial segundo Jones, desfecho do tratamento e tempo de seguimento. Resultados: Fizeram parte do escopo desta revisão onze artigos. Os estudos envolveram 131 pacientes, 53,4% do sexo masculino e 46,6% do feminino. A idade dos pacientes submetidos a algum procedimento cirúrgico variou de 1 ano e 10 meses a 15 anos. O tipo mais comum foi o I de Jones (40,9%). As complicações mais recorrentes no tratamento pela reconstrução foram: infecção do trajeto de pinos do fixador externo, contratura em flexão (principalmente do joelho), redução do arco de movimento de joelho e tornozelo. Conclusão: Não encontramos na literatura estudos suficientemente relevantes para comprovar a superioridade da reconstrução. A amputação se mantém até os dias de hoje o tratamento padrão-ouro para hemimelia tibial. Nível de evidência III; revisão sistemática de estudos de nível III.

Fibular hemimelia: reconstruction of difficult cases with tibial lengthening and ankle arthrodesis.

PURPOSE: Management of fibular hemimelia includes either prosthetic care with or without a suitable amputation or tibial lengthening. Many studies have documented the success of both procedures. Most parents of these children refuse an amputation or have no access to good prosthetic care. The author presents a limb-salvage procedure with tibial lengthening and ankle stabilization. METHODS: Twelve children of fibular hemimelia with 14 extremities had been subjected to limb lengthening after lateral leg release. To correct the valgus procurvatum, double oblique diaphyseal osteotomy (DODO) of the tibia was performed in 11 extremities. The age of the patients ranged from two to 15 years with the median of five years. All were male. The proposed procedure included three stages of loosening, lengthening, and stabilization with ankle arthrodesis at a later stage. RESULTS: All patients returned for follow-up for the first four years and had been walking on their sensate feet. With DODO followed by fixator/traction could straighten and lengthen the tibia simultaneously and correct the valgus procurvatum. Ankle stabilization provided stability and a plantigrade foot. A follow-up of six to 30 years with a median of ten years has been reported. CONCLUSION: A new procedure of loosening, lengthening, and stabilization of the leg with ankle arthrodesis has been proposed. A follow-up of 30 years with a median of ten years of the said procedure has been reported. The procedure provides a long-lasting plantigrade and painless foot that has sensation and proprioception. An amputation at any level has not been recommended.

Characteristics of terminal hemimelia: What is the difference between terminal hemimelia and classic fibular hemimelia?

Purpose: Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia. Methods: In total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed. Patients were divided into terminal hemimelia and classic fibular hemimelia groups, and their demographic characteristics and clinical and radiographic findings were compared. Results: Femoral shortening, knee valgus, and tibial spine hypoplasia were less common in terminal hemimelia (n = 13) than in classic fibular hemimelia (n = 17) (p = 0.03, p < 0.001, and p = 0.003, respectively). None of the patients in the terminal hemimelia group exhibited knee instability, whereas 12% of patients with classic fibular hemimelia did. Ball-and-socket ankle and absence of lateral rays were commonly observed in both groups. However, tarsal coalition was observed less frequently in terminal hemimelia (p = 0.004). All terminal hemimelia patients exhibited a painless plantigrade foot without ankle instability. Despite limb-length discrepancy at maturity averaging 40.4 mm for terminal hemimelia and 67.0 mm for classic fibular hemimelia (p < 0.001), patients with terminal hemimelia, except for one, exhibited > 20 mm of limb-length discrepancy. However, 46% of them underwent limb-length equalization procedures, mostly single-stage tibial lengthening, at a mean age of 11.2 years. Conclusion: Terminal hemimelia may present with a milder phenotype than classic fibular hemimelia. It mainly overlaps with the symptoms of fibular hemimelia below the ankle joint and manifests as limb-length discrepancy. However, a considerable number of patients with terminal hemimelia required limb-length equalization procedures, for example single-stage tibial lengthening. Level of evidence: level IV.

Bilateral ulna hemimelia with humeroradial synostosis and oligodactyly: A case report.

Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000. This condition has been classified into 4 types, with the rare Type 4 variant involving humeroradial synostosis. We present a unique case of bilateral complete ulna hemimelia, humeroradial synostosis, and oligodactyly, in an 11-month-old female with bilateral upper limb shortening and restricted elbow movement since birth. Clinical examination revealed bilateral upper limb shortening, medial deviation of both wrist joints, fixed extension of both elbow joints, and bilateral absence of the cubital fossa. Radiographs confirmed bilateral micromelia, absence of ulna, humeroradial synostosis, and oligodactyly. This case, exhibiting bilateral Type 4 ulna hemimelia with Class 1 humeroradial synostosis, is a complex variant, rarely reported, and the first documented in Ghana. It also highlights the importance of radiological assessment in ensuring accurate diagnosis. Long-term follow-up and potential surgical interventions are crucial for optimizing upper limb function in such cases.

Bone reconstruction in the treatment of tibial hemimelia: an alternative to amputation? / Reconstrução óssea no tratamento da hemimelia tibial: uma alternativa para amputação?

ABSTRACT Objective: To evaluate the advantages and disadvantages of bone reconstruction and lengthening compared to amputation in the treatment of tibial hemimelia for patients and their families. Methods: Systematic review of articles published in English and Portuguese between 1982 and 2022 in the MEDLINE, PubMed, Cochrane and SciELO databases. The variables of interest were: year of publication, sample characteristics, classification of tibial hemimelia according to Jones, treatment outcome and follow-up time. Results: A total of eleven articles were included in the scope of this review. The studies involved 131 patients, 53.4% male and 46.6% female. The age of the patients who underwent a surgical procedure ranged from 1 year and 10 months to 15 years. The most common type was Jones' I (40.9%). The most recurrent complications in the reconstruction treatment were: infection of the external fixator path, flexion contracture (mainly of the knee), reduction in the range of motion of the knee and ankle. Conclusion: We did not find enough relevant studies in the literature to prove the superiority of reconstruction. Amputation remains the gold standard treatment for tibial hemimelia to this day. Level of Evidence III, systematic review of level III studies

RESUMO Objetivo: Avaliar as vantagens e desvantagens da reconstrução óssea e alongamento comparada à amputação no tratamento da hemimelia tibial para pacientes e familiares. Métodos: Revisão sistemática, com análise de artigos publicados nas línguas inglesa e portuguesa entre 1982 e 2022, nas bases de dados MEDLINE, PubMed, Cochrane e SciELO. As variáveis de interesse foram: ano de publicação, característica da amostra, classificação da hemimelia tibial segundo Jones, desfecho do tratamento e tempo de seguimento. Resultados: Fizeram parte do escopo desta revisão onze artigos. Os estudos envolveram 131 pacientes, 53,4% do sexo masculino e 46,6% do feminino. A idade dos pacientes submetidos a algum procedimento cirúrgico variou de 1 ano e 10 meses a 15 anos. O tipo mais comum foi o I de Jones (40,9%). As complicações mais recorrentes no tratamento pela reconstrução foram: infecção do trajeto de pinos do fixador externo, contratura em flexão (principalmente do joelho), redução do arco de movimento de joelho e tornozelo. Conclusão: Não encontramos na literatura estudos suficientemente relevantes para comprovar a superioridade da reconstrução. A amputação se mantém até os dias de hoje o tratamento padrão-ouro para hemimelia tibial. Nível de evidência III; revisão sistemática de estudos de nível III.

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.

BACKGROUND: Fibular Hemimelia (FH) is the most common longitudinal limb deficiency. Significant limb length discrepancy (LLD) will necessitate long treatment times and multiple settings to compensate for LLD when associated with femoral shortening. This study evaluates the outcome of simultaneous femoral and tibial lengthening using the Ilizarov frame. METHODS: This retrospective study included the cases of 12 children with severe limb length discrepancy caused by combined FH and ipsilateral femoral shortening from May 2015 to August 2022. The total LLD ranged from 7 to 14.5 cm. All patients underwent single-session femoral and tibial lengthening using the Ilizarov ring external fixator technique. Additional procedures were performed in the same setting, including Achilles tendon lengthening, fibular anlage excision, peroneal tendons lengthening, and iliotibial band release. Follow-up ranged from 2 to 4 years. RESULTS: The planned limb lengthening was achieved in ten cases (83%). No cases of joint subluxation or dislocation were encountered. No neurovascular injury has occurred during the treatment course. In all cases, the bone healing index was better on the femoral side than on the tibia. Poor regeneration and deformity of the tibia occurred in two cases (16.6%). CONCLUSION: Simultaneous femoral and tibial lengthening using the Ilizarov fixator is a relatively safe procedure with the result of correction of total LLD in one session in a shorter time and less morbidity.

Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique.

Introduction: The management of tibial hemimelia can be complex and involve either amputation or reconstruction. The decision made carries significant implications on patients and their families. This is a case series in the management of Type IV tibial hemimelia with a description of a novel surgical technique in the reconstructive arm of the pathway. Materials and methods: The study included four patients with bilateral tibial hemimelia have an amputation in one limb and reconstructive surgery on the other. The reconstruction involved a supratalar double osteotomy of the tibia and fibula, followed by a staged hindfoot osteotomy using a circular ring fixator. Functional outcomes are reported using the Special Interest Group in Amputee Medicine (SIGAM) and the short form 12 (SF-12) methods. Results: The mean age of patients in our cohort is 14 years (3-27 years) with mean age of surgery at 3 years. One case had an amputation following initial reconstructive surgery due to psychological distress and regressive behaviour. SIGAM functional outcome scores of F were recorded in three of four cases, with one patient performing at level B. On the reconstructive side, two of three patients reported a mean physical short form 12 (SF-12) score of 56.7 and a mental SF-12 score of 55.7. One patient reported a physical SF-12 score of 28.5 and a mental SF-12 score of 30.3. Discussion and conclusion: A reconstructive option provides a satisfactory functional outcome, comparable to the population mean, in the majority of patients in our cohort. Clinical significance: A staged supratalar double osteotomy followed later by a hindfoot osteotomy is effective in centralising the ankle and creates a plantigrade weight-bearing platform for ambulation in patients with Type IV tibial hemimelia. How to cite this article: Tang CH, Addar A, Fernandes JA. Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique. Strategies Trauma Limb Reconstr 2023;18(1):32-36.

The Use of Ilizarov Method at the Lower Extremity Deformity Management.

Objectives: Complications are common in the treatment of lower extremity congenital or acquired deformities by Ilizarov method. The results to be obtained vary in specific patient groups. In this study, deformities who developed before the age of 16 were compared with those developed after this age regardless of the type of aetiology, in terms of results obtained, treatment durations and complications encountered. Methods: 53 bone deformities with an average of 9.5 (7.5-18) years of follow-up treated by the same surgeon were divided into 2 groups according to the age of deformity onset. Demographics and deformity characteristics of patients were defined, treatment times, bone healing indexes, consolidation/correction rates, problems encountered and results obtained were compared retrospectively. The results were compared with ASAMI functional and bone scoring. Complications were rated according to Paley and relative risk increases between groups were calculated. Results: 26 of the patients were men and 22 were women. The average age was 26.47 (7-57). The mean deformity was 23.98° (7-60) and the mean shortness in 39 patients was 38.65 (10-110)mm. Mechanical axis deviation was corrected in 83% of patients. The Lengthening index was 54.13days/cm in the development group and 63.69 days/cm in adults. Consolidation/correction rate was 2.54 in developmental age and 2.4 (p=0.698) in adults. The risk increased by 1.02 times in terms of problems encountered, 2 for obstacles, 3 times in complications and 1.34 times in total difficulties per case, according to Paley. The duration of stay in the fixator was higher in developmental group (p=0.023). ASAMI functional (p=0.000148) and anatomical (p=0.000242) scores were better in the adult group. Conclusion: Congenital or acquired deformities in the lower extremity can be treated with satisfactory results by Ilizarov method. The development of deformity at an early age makes treatment difficult. Although the bone healing index is lower in this group of patients, which usually has a higher amount of shortness, the treatment is usually longer than that of adult deformities; complications are more frequent and serious. Functional and anatomical results are more unsuccessful.

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report.

BACKGROUND: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. CASE PRESENTATION: Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. CONCLUSIONS: Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.

Ulnar Longitudinal Deficiency: A Case Report.

Ulnar longitudinal deficiency (ULD) is a rare skeletal condition marked by the partial or complete failure of the formation of the ulna. This rare condition is often associated with fixed flexion deformity, radial head subluxation, complex carpal, metacarpal, and digital abnormalities. Most presentations are male-preponderant and right-sided. Different classifications have described ULD. Usually, the condition is not associated with systemic findings; however, detailed physical examination and radiologic evaluations are crucial for assessing and managing affected patients. We report a rare case of ULD in an 11-month-old female infant with congenital absence of the left ulna, four digits, and a postaxial hypoplastic finger.

Foot Oligodactyly as the Main Dysplasia in Children.

Introduction Foot oligodactyly is usually associated with fibular insufficiency or cleft foot syndrome. A foot with a reduced number of rays may occasionally have an isolated dysplasia. Methods We reviewed the clinical notes and X-rays of six children with oligodactyly, having a normal development of the tibia and fibula. Clinical evaluation recorded the plantigrade or deviated foot, appropriate shoe wear, and aesthetic presentation of barefoot children. Radiological examination revealed missing or hypoplastic bones in the foot, the presence of other deformities, and leg length discrepancy (LLD) of the affected limb. Results On clinical evaluation, all children except one had a plantigrade foot with normal shoe wear; the lesion was not spotted in three of them unless informed of the presence of the dysplasia. Radiological examination in four of them revealed the absence or hypoplasia of the navicular, with a normal shape of the first metatarsal. Calcaneocuboid joints were normal in five of them; LLD was the main problem in three children. The girl with bilateral oligodactyly presented as a normal child. Conclusion Oligodactyly may present as an isolated dysplasia. LLD in these patients, which is less severe than in children with fibular or tibial insufficiency, is the main issue that requires surgical management in later life. Prenatal diagnosis of oligodactyly as an isolated dysplasia is an important feature for appropriate counseling of parents.

A "Congenitally Adapted" TFCC Tear in Radial Longitudinal Deficiency: Case Report and Review of Literature.

We present a case of chronic wrist pain in a 14-year-old child with mild radial longitudinal deficiency and radiographic carpal collapse due to the absence of the scaphoid. Wrist arthroscopy demonstrated synovitis and a tear to the TFCC, which would be called "degenerative," according to the Palmer classification. This was debrided, and the patient is still asymptomatic at long-term follow-up. Review of the literature found one paper with a similar observation in a 17-year-old adolescent. We propose that paediatric "degenerative" tears ought to be called "congenitally adapted" tears.

Carpal Tunnel Syndrome in the Setting of Ulnar Dysmelia.

Ulnar dysmelia is a congenital anatomic disorder characterized by abnormal development of the ulna and subsequent distal bones. This rare disorder has a heterogeneous presentation in patients described in the literature. We present the case of a 23-year-old woman with ulnar dysmelia who lacked the ulnar attachments of the transverse carpal ligament and developed carpal tunnel syndrome at a relatively young age, requiring carpal tunnel release. This case report presents an interesting and unique cause of carpal tunnel syndrome and reviews the literature on ulnar dysmelia.

Complication of lengthening and the role of post-operative care, physical and psychological rehabilitation among fibula hemimelia.

There is a clear clinical need for efficient physiotherapy and rehabilitation programs during and after bone lengthening and reconstruction for gaining the optimal effect and also prevention or treatment of lengthening side effects. Pin tract infection is the most prevalent side effect during lengthening which could be prevented and treated initially via proper wound care. Muscle contractures are typically a consequence of the generated tension on the distracted muscle. It can be managed by physiotherapy initially and surgically in later severe stages. Furthermore, it is essential to avoid muscle contracture development, which is the demonstration of the imbalanced muscle appeals on the joint to inhibit the following subluxation. The knee is the furthermost affected joint by the aforementioned problem due to the inherent lack of ligamentous and bony stability. Joint stiffness is the other possible unfavorable effect of lengthening. It happens because of extensive muscle contractures or may possibly be attributed to rigidity of the joint following the amplified pressure on the joint surface during the process of lengthening. Physiotherapy and occupational therapy including endurance and strength exercise as well as stretching play an important role during the rehabilitation periods for the prevention and also the treatment of muscle contracture and the following deformity and also joint stiffness. Likewise, the effect of mental and physical rehabilitation programs should not be overlooked.

Hemimelia tibial: Presentación de un caso / Tibial Hemimelia

Introducción: La hemimelia tibial o hemimelia paraxial longitudinal tibial, es una deficiencia congénita de la tibia. Esta deficiencia de los miembros inferiores longitudinal tibial, es muy rara y su frecuencia está en el orden de 1: 1 000 000 de niños nacidos vivos. Objetivo: Presentar un caso de hemimelia tibial diagnosticado por medio del cuadro clínico y radiografías y tratado quirúrgicamente. Presentación del caso: Paciente masculino de dos horas de nacido, atendido por presentar malformación congénita a nivel de la pierna derecha que se presentaba acortada con una prominencia dura a nivel proximal y el pie con deformidad marcada en supinación, aducción y rotación interna. Se realizó examen físico exhaustivo de la extremidad afecta y se constató el acortamiento evidente de la misma. Se indicó radiografía anteroposterior y lateral de la pierna y se observó que el segmento proximal de la tibia y el peroné estaban bien, pero con implantación alta, por lo que se diagnosticó una hemimelia tibial tipo II de Jones. Luego del alta el niño recibió seguimiento por consulta de Genética y el servicio de Ortopedia donde se decidió someterlo a un primer tiempo quirúrgico a los 6 meses de edad, mediante tibialización del peroné. A los 10 meses se realizó un segundo tiempo quirúrgico para centrar el astrágalo al peroné. Conclusiones: La hemimelia tibial se considera un diagnóstico poco frecuente en nuestro medio. No existe prevención conocida. El tratamiento es complejo y altamente especializado, y en algunos casos requiere la amputación temprana del miembro afectado para adaptar al paciente al uso de prótesis(AU)

Introduction: Tibial hemimelia or tibial longitudinal paraxial hemimelia is a congenital deficiency of the tibia. This tibial longitudinal lower limb deficiency is very rare and its frequency is in the order of 1: 1,000,000 live births. Objective: To report a case of tibial hemimelia diagnosed through the clinical condition and radiographs and treated surgically. Case report: We report the case of a two-hour-old male patient, treated for a congenital malformation at the level of the right leg that was shortened with a hard prominence at the proximal level and the foot with marked deformity in supination, adduction and internal rotation. An exhaustive physical examination of the affected limb was carried out and its evident shortening was confirmed. Anteroposterior and lateral X-rays of the leg were indicated and it revealed that the proximal segment of the tibia and fibula were fine, but with high implantation, for which a Jones type II tibial hemimelia was diagnosed. After discharge, the child was followed up by the Genetics consultation and the Orthopedics service, where it was decided to undergo a first stage surgery at 6 months of age, by means of tibialization of the fibula. At 10 months, a second surgical time was performed to center the talus to the fibula. Conclusions: Tibial hemimelia is considered a rare diagnosis in our setting. There is no known prevention. Treatment is complex and highly specialized, and in some cases requires early amputation of the affected limb to adapt the patient to the use of a prosthesis(AU)

A rare case of radius hemimelia: a case report.

Radial dysplasia congenital defect resulting in shortening of the forearm due to congenital shortening of the radius. Isidore Geoffroy Saint-Hilaire coined the term "hemimelia" around 1836-1837. Affected individuals may also have reduced limb functions abnormalities of the soft tissues, vasculature of the forearm. The management consist of splinting, stretching, and centralization. Physical therapy management plays a vital role in regaining hand function and improving quality of life. In severe cases, surgical correction such as osteotomy. Radial hemimelia is a rare disorder with 1/5000-30,000 live birth. A 16-year-old girl was admitted to Acharya Vinoba Bhave Rural Hospital (AVBRH) with complaints of weakness of the right upper limb along with a tingling sensation from the past 1 year. She was operated on with ulnar osteotomy and physical therapy management was initiated which consists of regaining mobility and strength and making the patient functionally independent. We concluded that a well structure physical therapy protocol along with medical therapy post-surgery improved the overall status of the patient.

Protetización temprana y seguimiento de paciente pediátrico con hemimelia tibial / Early Fitting and Follow-Up of A Pediatric Patient with Tibial Hemimelia

Introducción: La hemimelia tibial es una entidad poco frecuente, presente hasta en 1:1.000.000 nacidos vivos. Tiene una asociación genética autosómica recesiva, y se presenta con cambios en la morfología del miembro inferior con una tibia ausente o presente parcialmente, además de cambios en peroné, rodilla y pie. Según su clasificación se puede manejar con reconstrucción quirúrgica de la extremidad o amputación. La posibilidad de una prótesis temprana favorece el resultado funcional del paciente y su adaptación protésica. Objetivo: Presentar el caso de una entidad poco común tratada con desarticulación a nivel de la rodilla y prótesis por su grado de compromiso. Presentación de caso: Paciente femenina de tres años con compromiso del miembro inferior derecho. Los primeros años usó una prótesis artesanal fabricada por su familia. Fue valorada por la Junta Médica de rehabilitación y ortopedia que decidió intervención quirúrgica para desarticulación de la rodilla. Se realizó protetización temprana en busca de beneficios de cicatrización, control del edema y adaptación postquirúrgica. Se realizan controles posteriores con ajustes a la prótesis de acuerdo con las necesidades propias de la edad de la paciente. Conclusiones: Se muestra una adecuada evolución postquirúrgica, sin dolor o neuropatía, con un reinicio temprano de la marcha y progreso adecuado de su neurodesarrollo e integración social, lo que da una pauta de manejo en paciente pediátrico con este tipo de deformidades(AU)

Introduction: Tibial hemimelia is a rare entity, reported in up to 1:1,000,000 live births. It has an autosomal recessive genetic association, and it presents with changes in the morphology of the lower limb with an absent or partially present tibia, as well as changes in the fibula, knee, and foot. Depending on its classification, it can be managed with surgical reconstruction of the limb or amputation. The possibility of an early prosthesis favors the functional result of the patient and his prosthetic adaptation. Objective: To report the case of a rare entity treated with knee disarticulation and prosthesis due to its degree of compromise. Case report: The case of a three-year-old female patient with compromise of the lower right limb is reported here. The first years she used a handmade prosthesis made by her family. She was assessed by the Medical Board of Rehabilitation and Orthopedics, which decided to undergo surgery for knee disarticulation. Early fittings were performed in search of healing benefits, edema control and post-surgical adaptation. Subsequent controls were carried out with adjustments to the prosthesis according to the needs of the patient's age. Conclusions: An adequate post-surgical evolution is shown, without pain or neuropathy, with early resumption of gait and adequate progress of their neurodevelopment and social integration, which provides recommendation for management in pediatric patients with this type of deformity(AU)

Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight.

The syndrome of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare genetic disease that has been increasingly reported over the past 40 years. We report the case of a newborn boy with unilateral skeletal abnormalities that were evident clinically and radiologically. The baby was an infant of a diabetic mother, and the Egyptian parents were consanguineous with a strong family history of genetic diseases and congenital anomalies. Besides describing a new case report of this syndrome, we emphasize the importance of prenatal diagnosis and genetic counseling, especially for families at high risk for genetic diseases in developing countries.