The short-term outcomes of congenital radioulnar synostosis patients treated with modified reverse Sauvé-Kapandji technique / 中华骨科杂志

Objective:To evaluate the short-term outcomes of modified reverse Sauvé-Kapandji technique in treating the congenital radioulnar synostosis.Methods:A retrospective analysis was performed on the data of 46 congenital radioulnar synostosis patients were treated with modified reverse Sauvé-Kapandji technique in Beijing Jishuitan Hospital from December 2018 to January 2020, including 38 males (45 sides), 8 females (9 sides), average age 6.6 (3.2, 8.1) years old. All the patients were classified as type III according to Cleary-Omer classification and were followed up for at least 1 year. All the patients were treated with same operation, in which 1.5 cm shaft was resected at the proximal radius, allogeneic graft tendon was used as interposition, and rotational osteotomy was performed in the middle of the ulnar shaft, with intramedullary needle or Kirschner wire fixation, depending on the intramedullary width of ulnar shaft. The radiological features were collected and recorded preoperatively and at the latest follow-up, together with the following evaluation indexes: modified Morrey tasks score, subjective function score, active forearm rotation range without compensation, active forearm rotation range with wrist joint compensation, and active forearm rotation range with wrist and shoulder joint compensation.Results:All patients were followed up for 14.6±3.4 months (range, 11.2-19.5 months). The uncompensated forearm rotation Angle was 0.0°±0.0° before surgery and 62.3°±23.7° after surgery. The forearm rotation angles before and after surgery with wrist compensatory surgery were 86.9°±29.4° and 133.2°±27.9°, respectively. The forearm rotation angles before and after surgery with wrist and shoulder joint compensatory surgery were 205.2°±42.7° and 245.2°±35.8°, respectively. There were statistically significant differences in the above indexes before and after surgery ( t=8.71, P<0.001; t=2.54, P=0.030; t=5.05, P<0.001). Ulnar union was observed in 31 patients (37 sides) after the operation, and the union duration was 6.1±2.3 months. There were 15 patients (17 sides) ulnar shafts faced with postoperative delayed union, the union duration was 8.4±1.6 months and were recovered after prolonging brace fixation and orthopedic shock wave treatment. The scores of subjective function and improved Morrey tasks of the 43 sides with good pseudo-joint were 12.1 (0.0, 20.8) and 0.7 (0.0, 1.0) points, respectively, which were improved compared with 33.9 (25.0, 41.6) and 3.2 (2.0, 4.0) points before surgery. The differences were statistically significant ( Z=-2.44, P=0.015; Z=-2.83, P=0.005). There were 11 forearms with postoperative pseudo-joint re-ankylosis, the average forearm rotation ranges without compensation was 11.4°±10.5°(range, 0°-30°), the average forearm rotation ranges with wrist compensation was 98.6°±15.9° (range, 80°-120°), the average forearm rotation ranges with wrist and shoulder compensation was 231.7°±16.9° (range, 210°-255°). The average subjective function scores was 26.7 (8.3, 39.6). The average modified Morrey tasks scores was 1.2 (0, 2), and there were no other postoperative complications. Conclusion:The reverse Sauvé-Kapandji technique showed a satisfying short-term outcome, and can be a new choice of treatment for type III congenital radioulnar synostosis.

Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Caracterización de las anomalías congénitas del Miembro superior en una institución prestadora de servicios de salud de Ibagué, Tolima, Colombia / Characterization of congenital anomalies of the upper member in an institution health care provider of Ibague, Tolima, Colombia

El objetivo de este estudio fue caracterizar las historias clínicas de los pacientes con diagnóstico de Anomalías Congénitas del Miembro Superior (ACMS), en un centro de referencia en la atención de malformaciones congénitas en la ciudad de Ibagué, Tolima, Colombia. Estudio descriptivo, retrospectivo. Se incluyeron todas las historias clínicas de los pacientes con diagnóstico de anomalías congénitas del miembro superior. Las ACMS se agruparon según la clasificación Swanson, modificada por la International Federation ofSocieties for Surgery of the Hand (Swanson/IFSSH). Se calcularon medias y porcentajes de las ACMS, género y distribución geográfica,frecuencia de malformaciones asociadas, lateralidad, intervención quirúrgica, número de intervenciones y co-morbilidades. Se evaluó un total de 194 casos (55,7% hombres y 44,3% mujeres). La edad promedio de consulta fue de 7,82±6,69 años. El 40,7%procedía de la ciudad de Ibagué, y el porcentaje restante de municipios aledaños y otros departamentos. Las más frecuentes fueron polidactilia radial(16,02%), deficiencia del rayo central (14,72%), sindáctila cutánea (11,26%). Se estimó una tasa cruda de incidencia para el departamento del Tolima en el año 2001 de 7,8/10.000 nacidos vivos, en el año 2002 de 8,6/10.000 nacidos vivos y en el año 2004 de 6,5/10.000 nacidos vivos. Conclusiones: Dadas las implicaciones en la funcionalidad, desarrollo cognitivo y productividad laboral de los pacientes con ACMS, se recomienda implementar un sistema de vigilancia epidemiológica que permita discriminar las anomalíascongénitas, según su ubicación anatómica, de tal forma que facilite su análisis y permita definir conductas adecuadas.

This study characterized the clinical records of patients diagnosed with Congenital Upper Extremity Anomalies (CUEA) in a referencecenter in the care of congenital malformations in the city of Ibagué, Tolima, Colombia. Methods: A descriptive, retrospective study wasdone. We included all clinical records of patients diagnosed with CUEA. The CUEA were classified according Swanson modified by the International Federation of Societies for Surgery of the Hand system (Swanson/IFSSH). Means and percentages were calculated from theCUEA, gender and site distribution, frequency of associated deformities, laterality, surgical intervention, number of interventions and comorbidities.Results: A total of 197 cases (55.7% male and 44.3% female). The average age of consultation was 7.82 years ± 6.69; 40.7% came from Ibagué and the rest from the neighboring municipalities and other departments. The most common CUEA was radial polydactyly (16.02%), followed by central ray deficiency (14.72%), and cutaneous syndactyly (11.26%). We estimated crude incidence rate for the department of Tolima in 2001 of 7.8 per 10,000 live births, in 2002 of 8.6 per 10,000 live births and in 2004 6.5 per 10,000live births. Conclusions: Given the implications in the functionality, cognitive development and labor productivity of patients withCUEA, it is recommended to implement a surveillance system that allows discrimination of the congenital deformities, according to theiranatomical location, so as to facilitate analysis and to define appropriate behaviors.

Deformidades congênitas dos membros superiores: parte I: falhas de formação / Congenital deformities of the upper limbs: part I: failure of formation

Este artigo, dividido em três partes, tem por objetivo rever as deformidades congênitas mais comuns que afetam os membros superiores e descrever seus tratamentos. Nesta primeira parte, discute-se as falhas de formação. A bibliografia segue contínua a partir da primeira parte.

This article, divided into three parts, had the aims of reviewing the most common upper-limb malformations and describing their treatments. In this first part, failure of formation is discussed. The bibliography follows after the first part.

Rotational and shortening osteotomy at the conjoined mass in the treatment of congenital radioulnar synostosis in children / 中华骨科杂志

Objective To investigate effect of rotational and shortening osteotomy at the conjoined mass in the treatment of congenital radioulnar synostosis.Methods Fourteen cases of radioulnar synostosis in 13 patients were treated by rotational and shortening osteotomy at the conjoined mass of radius and ulna.There were 10 males and 3 females,aged from 2 to 7 years (average,3.5 years).The pronation deformity of the forearm ranged from 50° to 90° (average,82.1°).The affected limbs could not perform some activities of daily living such as eating by holding a bowl,cleaning genitals and buttocks,turning on the global door knob,turning a key in a keyhole,and accepting objects in the palm.The operation was done through Boyd approach,and the proximal interosseous membrane of forearm was identified and released.The conjoined mass of radius and ulna was cut and shortened about 0.5 cm,then the distal part of forearm was rotated to neutral position or 10° to 20° of supination.Finally two parts of osteotomy were closed and fixed by crossing Kirschner wires which were removed 8 to 16 weeks after operation when reunion had been achieved.Results The average correction of pronation deformity of the forearm was 90.7°.No ischemic contracture of the forearm and incision infection occurred.And bone union was achieved in all patients.The parents and children were satisfied with improvement of deformity and function of the affected limbs.All patients were followed up for 14 to 88 months (average,35.7 months),and there was no loss of correction.Conclusion Rotational and shortening osteotomy at the conjoined mass of radius and ulna is an effective method for treating congenital radioulnar synostosis,which can significantly improve deformity and function of the affected limbs,and decrease risk of ischemic contracture of the forearm after operation.

Características clínicas de pacientes com anemia de Fanconi / Clinical characteristics of patients with Fanconi anemia

OBJETIVO: Verificar as características clínicas de pacientes com anemia de Fanconi (AF) diagnosticados em um Serviço de Genética Clínica. MÉTODOS: O estudo incluiu todos os pacientes atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre e Complexo Hospitalar Santa Casa de Porto Alegre, entre 1975 e 2008, com suspeita clínica de AF submetidos ao estudo de quebras cromossômicas com o uso de diepoxi-butano (DEB) a partir do sangue periférico. Realizou-se uma análise retrospectiva das características clínicas dos pacientes, a partir de um levantamento sistemático dos seus prontuários médicos. RESULTADOS: A amostra foi composta de 17 pacientes, sendo que em sete o diagnóstico de AF foi confirmado. Os pacientes com AF caracterizaram-se por um fenótipo amplo, oscilando desde um quadro de pancitopenia sem dismorfias até a presença de múltiplas malformações sem alterações hematológicas. Certos achados, como face triangular, orelhas em abano e manchas café com leite foram frequentes e encontrados apenas nos indivíduos com AF. História de equimoses, hematomas, petéquias, infecções e linfadenopatias foi comum entre os indivíduos desse grupo. Por outro lado, alterações neurológicas foram observadas apenas em pacientes sem AF. Consanguinidade foi verificada em apenas um paciente, que apresentava AF. CONCLUSÕES: Apesar das limitações do estudo, os achados ilustram a grande variabilidade fenotípica observada na AF, o que torna seu diagnóstico clínico um desafio. No entanto, alguns achados específicos podem servir de pistas para sua detecção. A identificação precoce desses indivíduos é fundamental para o seu manejo adequado.

OBJECTIVE: To investigate the clinical characteristics of Fanconi anemia (FA) patients diagnosed in a Clinical Genetics Service. METHODS: The study included all patients assisted in an university genetics service in Southern Brazil, between 1975 and 2008, with clinical suspicious of FA and submitted to the study of chromosomal breakage with diepoxybutane (DEB) from peripheral blood. A retrospective analysis of the clinical characteristics of the patients was carried out by a systematic survey of their medical records. RESULTS: 17 patients were studied and seven had a confirmed diagnosis of FA. Patients with FA were characterized by a broad phenotype, ranging from pancytopenia without dysmorphisms to multiple malformations and absence of hematological alterations. Certain findings, such as triangular face, prominent ears and café-au-lait spots were common and found only among individuals with FA. History of bruises, hematomas, petechiae, infections and lymphadenopathies was also common among individuals of this group. However, neurological alterations were observed only in patients without FA. Consanguinity was verified in one patient who presented FA. CONCLUSIONS: Despite the limitations of this study, thefindings show the great phenotypical variability observed in patients with FA, which makes the diagnosis a clinical challenge. Nevertheless, some specific findings can serve as clues for FA detection. The early identification of these individuals is essential for their proper clinical management.

Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association / Dimelia fibular e polidactilia em espelho do pé em uma menina apresentando achados adicionais de associação VACTERL

CONTEXT: The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood. CASE REPORT: The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to induce abortion. On clinical evaluation, she was small for her age and presented hypotonia, anteverted nares, long philtrum and carp-like mouth. Her left hand had a reduction defect, with absence of the extremities of the second, third and fifth fingers and camptodactyly of the fourth finger. The ipsilateral lower limb presented significant shortening, especially rhizomelic shortening. Her left foot had a mirror configuration with seven toes and no identifiable hallux. The pelvis was hypoplastic. Esophageal atresia with tracheoesophageal fistula and imperforate anus were detected during the neonatal period. Abdominal ultrasound identified agenesis of the right kidney and left pyelocaliceal duplication. Radiographic evaluation on the left side showed iliac and femoral hypoplasia, absence of the tibia with a duplicated fibula and seven metatarsals and toes with no identifiable hallux on the foot. Echocardiography demonstrated an atrial septal defect. Based on the literature, we believe that the spectrum of malformations presented by our patient may be related to the vascular disruptive effect of the misoprostol. However, we cannot rule out the possibility that this association might simply be a coincidence.

CONTEXTO: A associação entre dimelia fibular e polidactilia em espelho do pé é considerada uma anormalidade de membro inferior bastante rara. Por outro lado, VACTERL é um acrônimo para uma associação não aleatória de anomalias congênitas cuja etiologia ainda é pouco compreendida. RELATO DO CASO: A paciente era uma menina branca de sete meses de idade, cuja mãe utilizou misoprostol no segundo mês de gravidez para indução de aborto. Na avaliação clínica, ela era pequena para a idade e apresentava hipotonia, narinas antevertidas, filtro longo e boca em carpa. A mão esquerda apresentava um defeito de redução com ausência das extremidades do segundo, terceiro e quinto dedos e camptodactilia do quarto. O membro inferior ipsilateral apresentava um importante encurtamento, especialmente rizomélico. O pé possuía uma configuração em espelho com sete dedos e nenhum hálux identificável. A pelve era hipoplásica. Atresia de esôfago com fístula traqueoesofágica e imperfuração anal foram detectadas durante o período neonatal. O ultrassom abdominal identificou agenesia do rim direito e duplicidade pielocalicial à esquerda. A avaliação radiográfica mostrou, no lado esquerdo, hipoplasia do osso ilíaco e do fêmur, ausência da tíbia com duplicação da fíbula, e presença de sete metatarsos e dedos, sem um hálux identificável, no pé. A ecocardiografia identificou um defeito do septo atrial. Acreditamos, com base na literatura, que o espectro de anormalidades apresentado por nossa paciente possa estar relacionado com o efeito disruptivo vascular do misoprostol. Entretanto, não podemos excluir a possibilidade de que essa associação possa ter sido simplesmente uma coincidência.