Long-term assessment of a modified tibial tuberosity advancement technique in dogs / Avaliação em longo prazo da técnica de avanço da tuberosidade tibial modificada em cães

The purpose of study was to assess long-term clinical and radiographic aspects of dogs' stifle joints which had undergone a modified tibial tuberosity advancement technique (mTTA). A total of 15 stifles that had undergone mTTA for CCL disease of 11 patients were included in this study. Assessments involved patient's gait analysis, cranial drawer and tibial compression tests, stifle goniometry range of articular motion, thigh and leg girth and radiographic evidence of progression of osteoarthrosis. Variables were compared between operated and healthy limbs and among moments (M0) on the early postop; (M1) 120 days postop; and (M2) approximately 5 years following surgery. A questionnaire regarding owner's perceptions after approximately 5 years of surgery was assessed. Most dogs presented positive response to cranial drawer and tibial compression tests on operated knees. There was also decrease on goniometry and thigh girth and increase in leg girth. Radiographic evidence of progression of osteoarthritis was seen especially on the long-term follow-up (M2). On gait analysis, most animals presented some degree of lameness in different conditions, in contrast to owners' perceptions. Osteoarthritis still develops in dogs following mTTA surgery for CCL disease. However, owners were overall satisfied with their recovery and would be willing to accept indication of mTTA for dogs with ruptured CCL.(AU)

O objetivo deste estudo foi avaliar, em longo prazo, aspectos clínicos e radiográficos do joelho de cães submetidos à técnica modificada de avanço da tuberosidade da tíbia (mTTA). Um total de 15 joelhos de 11 pacientes foram submetidos à mTTA para correção de doença do ligamento cruzado cranial. A avaliação envolvia análise de marcha do paciente, teste de compressão tibial e de gaveta, goniometria do joelho para amplitude articular, circunferência das pernas e coxas e evidência radiográfica de progressão da osteoartrose. As variáveis foram comparadas entre membros operados e saudáveis e entre os momentos (M0) no pós-operatório imediato; (M1) 120 dias de pós-operatório; e (M2) aproximadamente cinco anos após a cirurgia. Foi avaliado um questionário sobre as percepções do proprietário após aproximadamente cinco anos de cirurgia. A maioria dos cães apresentou resposta positiva aos testes de gavetas e de compressão tibial em joelhos operados. Houve também diminuição na goniometria e na circunferência da coxa e aumento do perímetro das pernas. Evidências radiográficas de progressão da osteoartrite foram observadas especialmente no seguimento de longo prazo (M2). Na análise de marcha, a maioria dos animais apresentou algum grau de claudicação em diferentes condições, em contraste com as percepções dos proprietários. A osteoartrite ainda se desenvolve em cães após a cirurgia de mTTA para doença CCL. No entanto, os proprietários estavam, em geral, satisfeitos com a recuperação dos animais e estavam dispostos a aceitar a indicação de mTTA para cães com doença do ligamento cruzado cranial.(AU)

Síndrome TAR en paciente adulto sin diagnóstico previo: presentación de un caso / TAR syndrome in an adult patient without previous diagnosis, a case report

El síndrome TAR (Thrombocytopenia with Absent Radius) es una patología congénita autosómica recesiva infrecuente, caracterizada por trombocitopenia con aplasia de radio bilateral. Incluye malformaciones esqueléticas, renales, hematológicas y cardíacas. Su base genética todavía no está clara. Presentamos el caso de una paciente sin diagnóstico previo de síndrome TAR que llega a la consulta, tras haber sido evaluada por varios profesionales médicos, para el diagnóstico y el tratamiento de trastornos hematológicos, que finalmente estuvieron asociados a su síndrome congénito. (AU)

Thrombocytopenia with Absent Radius (TAR) is a rare autosomic recessive disease characterized by thrombocytopenia and bilateral radial aplasia, which includes skeletal, hematologic, renal and cardiac abnormalities. The genetics bases of this syndrome remain unclear. We report here a patient without a previous diagnosis of TAR syndrome who was seen in the clinic, after being evaluated by several medical professionals for diagnosis and treatment of blood disorders, which eventually were associated with the congenital syndrome. (AU)

Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.

Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.

Congenital isolated right radial club hand

Congenital radial club hand [RCH] is an uncommon congenital anomaly characterized by various degrees of deficiency along the preaxial or radial side of the extremity. We present one such case of Type 4 congenital isolated RCH who presented to a tertiary care center in the Middle East

Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

Isodicentric chromosome 18 [idic[18]] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. the parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization [array-CGH] revealed 18p11.21[right wards arrow] qter]. Fluorescent in situ hybridization [FISH] confirmed that the derivative chromosome was idic[18]. Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome

Antley-Bixler syndrome: a case report and result of radiohumeral synostosis resection

Antley-Bixler syndrome [ABS] is a rare congenital disorder with multiple skeletal and cartilaginous anomalies that demand orthopedic management. In this report we address the diagnostic features and associated malformations of this syndrome and describe the functional outcome of resection of radio humeral synostosis in a 9 month old girl with Antley-Bixler Syndrome

Functional results of surgical treatment of congenital superior radio-ulnar synostosis in children by muscle transfer and derotational osteotomy

This study was performed to evaluate the functional results of surgical treatment of congenital superior radio-ulnar synostosis [SRUS] in children by Anconeus muscle transfer and derotational osteotomy. Patients diagnosed as having SRUS presented to the outpatient clinic of the Suez Canal University Hospitals between august 2003 to October 2006. 6 patients were included in the study as 4 males and 2 females, and two male patients had bilateral deformity with the total number of deformed SRU joint of 8. The average age was 4.8 [3-8] years. History taking about the functional deficit caused by this deformity and local examination of the affected elbow joint for evaluation and measurement of the range of motion of flexion and extension, supination and pronation movement. The position of the forearm and if it is a bilateral deformity was also evaluated and measured. Pre-operative plain x-ray was done for every patient for evaluation of the degree of the synostosis and if there is any other consequent deformities such as bowing of the radius. Anconeus muscle transfer and derotational osteotomy of the distal radius was done for all patients and post-operative evaluation through x-rays and clinical evaluation for the range of supination and pronation was done and at one year of follow-up. All patients had fixed pronation deformity of the forearm pre-operatively at 70 degrees [ranged from 60 to 80 degrees] and this position causes functional disability. Post-operatively, they had a range of motion with the degree of supination as 30 degrees [range from 20 to 40 degrees], and the degree of pronation is 60 degrees [range from 40 to 70 degrees] and the range of motion was assessed after one year and all patients had decrease of the range of supination and pronation in different degrees as the supination was 25 degrees [ranged from 10 to 40 degrees] and the pronation was 40 degrees [ranged from 35 to 55 degrees]. Surgical treatment of congenital superior radio-ulnar synostosis in children using the Anconeous muscle as an interpositional material prevented recurrence of the ankylosis and improving rotation of the forearm. Also, derotational osteotomy of the radius will prevent dislocation of the radial head and this will improve rotation of the forearm as well. In addition this technique is more easy than other procedures and has less complications

Holt-Oram syndrome with double outlet right ventricle with valvular and subvalvular pulmonary stenosis

The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects, most commonly an atrial septal defect. We report a rare case of sporadic Holt-Oram syndrome with double outlet right ventricle [DORV], valvular and subvalvular pulmonary stenosis, persistent left superior vena cava draining to the left atrium, and an ectopic right kidney

Chronic dislocation of the radial head in children, open reduction and annular ligament reconstruction

Background: There is a controversy as regard treatment of chronic dislocation of the radial head in children. Treatment varies from watchful waiting, open reduction with or without annual ligament reconstructions, open reduction with or without ulnar or radial osteotomy and excision of the radial head. Purpose To evaluate our results of open reduction and annular ligament reconstruction, using triceps aponeuosis

Patients and Methods: Nine elbows [4 traumatic, 2 congenital, 2 following brachial plexus injuries, one following multiple osteochondromas] in nine children with chronic radial head dislocation were treated with open reduction and annular ligament reconstruction using triceps apponeurosis. There were six girls and three boys. Their mean age at the time of surgery was 6 years 8 months [range: 3 years 9 months to 9 years 1 month]. Radial osteotomies were needed in 3 cases. Clinical and radiological evaluations were done according to Kim's elbow scoring system

Results: Initial postoperative radiographs showed anatomic reduction of radial head in all cases however during follow up two redislocations were encountered. Mean follow up period was 3 years 4 months [range: 1 year 2 months to 4 years 5 months]. Cases were graded excellent in 5 patients, good in one, fair in one and poor in two patients

Conclusion: Open reduction and annular ligament reconstruction ensure stable radial head in cases of chronic dislocation of the radial head however congenital dislocation needs careful approach

Nager's acrofacial dysostosis with hypertrophic cardiomyopathy

Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually encountered in published cases

Radioulnar synostosis in a father and his 5 year old daughter

Radioulnar synostosis is rare and its hereditary link is doubtful. In this report a 39-year old man with proximal bilateral radioulnar synostosis and his daughter with proximal unilateral radioulnar synostosis are presented

Radial club hand deformity--the continuing challenges and controversies.

The records of 27 patients with Radial club hand deformity attending the Hospital and Rehabilitation Centre for Disabled Children (HRDC) were reviewed. This longitudinal intercalary deficiency of forearm growth has a varied clinical presentation and the goals of management are both improved function and cosmesis. We present the results of our treatment and review the current world literature on this challenging orthopaedic deformity.

TAR syndrome [case report]

Diagnosis of TAR syndrome usually is made at birth because of the characteristic physical appearace combined with thrombocytopenia. The Two essential features of TAR syndrome are hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. The rest of the phenotype varies widely and can manifest with abnormalities involving skeletal, skin, gastrointestinal and cardiac systems. Considering to limited cases of syndrome and variability of phenotypic abnormalities exess two essential features, all cases of this syndrome are reportable. We reported a patient with TAR syndrome with any related malformations

Sirenomelia with radial dysplasia.

Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.

Oculomotor nerve haemangioma in patient with Robert's syndrome

A 47-year-old male patient from Yemen, a known case of Robert's Syndrome presented with gradual deterioration of function of both oculomotor nerves. Computed tomography scan and magnetic resonance imaging examination of the brain revealed partial sclerosed lesion with significant enhancement at the area of interpendicular cistern. On exploration, the lesion proved to be haemangioma arising from the right oculomotor nerve. Clinical presentation, surgical management and review of the literature are discussed