Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso / Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report

Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

Clinical and genetic analysis of a child with mental retardation autosomal dominant 7 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face.@*METHODS@#The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants.@*RESULTS@#The clinical manifestations of the child were overall developmental backwardness, seizures, autism, and special facial appearance. High throughput sequencing showed that there was a heterozygous mutation of exon 11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) of the DYRK1A gene. The same variant was found in neither of her parents, suggesting that it has a denovo origin.@*CONCLUSION@#The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.

Artrogripose Múltipla Congênita: Relato de dois casos / Arthrogryposis Multiplex Congenita: Report of two cases

RESUMO: A Artrogripose Múltipla Congênita (AMC) é uma síndrome rara, que representa um grupo de condições congênitas caracterizado por contraturas articulares em duas ou mais articulações, não progressivas, geralmente simétricas, de etiologia desconhecida e que pode estar associada a outras malformações, como viscerais e neurológicas. Apresenta-mos dois casos isolados com achados característicos de AMC, atendidos em ambulatório de pediatria de alto risco de uma cidade do Oeste do Paraná. Caso 1: lactente, sexo feminino, 14 dias de vida, com redução dos movimentos fetais referidos pela mãe, apresentando malformações envolvendo somente os membros, visualizadas logo após o nasci-mento. Caso 2: lactente, sexo masculino, quatro meses de vida, com diagnóstico de hipocinesia fetal ao ultrassom obstétrico de 23 semanas, ao nascimento apresenta contraturas dos membros e disfunção do sistema nervoso cen-tral. O diagnóstico da artrogripose é complexo e essencialmente clínico, sendo necessária uma anamnese meticulosa, contemplando uma avaliação da gestação, via de parto, história familiar e um exame físico minucioso, classificando quais os tipos de contraturas, membros envolvidos, presença de musculatura alterada e de alterações neurológicas, a fim de diferenciar a AMC das outras síndromes que também cursam com contraturas articulares. O seguimento e tratamento dos lactentes com artrogripose devem ocorrer em acompanhamento multidisciplinar devido às variadas manifestações que a doença pode apresentar e à característica de recidiva ao longo dos anos. (AU)

ABSTRACTArthrogryposis Multiple Congenita (AMC) is a rare syndrome that represents a group of congenital conditions character-ized by joint contractures in two or more joints, non-progressive, usually symmetrical, of unknown etiology and which may be associated with other malformations, such as visceral and neurological. We present two isolated cases with characteristic features of AMC, seen in a high-risk pediatrics outpatient clinic in a city in western Paraná. Case 1: infant, female, 14 days old, with reduced fetal movements reported by the mother, presenting malformations involving only the limbs, seen immediately after birth. Case 2: infant, male, four months old, diagnosed with fetal hypokinesia on 23-week obstetric ultrasound, at birth, presents limb contractures and central nervous system dysfunction. The diagnosis of ar-throgryposis is complex and essentially clinical, requiring a meticulous anamnesis, including an assessment of pregnan-cy, delivery, family history and a thorough physical examination, classifying what types of contractures, involved limbs, presence of altered musculature and neurological changes to differentiate AMC from other syndromes that also have joint contractures. The aftercare and treatment of infants with arthrogryposis must occur in multidisciplinary follow-up due to the varied manifestations that the disease may present and the characteristic of recurrence over the years. (AU)

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.

Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review / Evidências e práticas do uso do sequenciamento de nova geração em pacientes com ataxias cerebelares autossômicas dominantes não diagnosticadas: uma revisão

ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.

RESUMO As ataxias cerebelares autossômicas dominantes (ACAD) são doenças heterogêneas com fenótipo e genótipo altamente variáveis. Podem ser divididas em ataxia episódica e ataxia espinocerebelar (SCA), sendo este último considerado o protótipo do ACAD. A maior parte das ACAD são causadas por expansões de poliglutaminas, principalmente SCA 1, 2, 3, 6, 7, 17 e atrofia dentatorubro-palidoluisiana (DRPLA). No entanto, 30% dos pacientes permanecem sem diagnóstico após o teste para essas SCA mais comuns. Recentemente, vários estudos têm demonstrado que a nova geração de métodos de sequenciamento são ferramentas úteis para o diagnóstico desses pacientes. Esta é uma revisão sistemática da literatura, com foco em sua utilidade na prática clínica e em perspectivas futuras.

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay / Artrogripose múltipla congênita em bovinos Aberdeen Angus no Uruguai

Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)

Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)

Ortodoncia con sistema de alineación con placas en pacientes con discapacidad / Orthodontics with plate aligning system in disabled patients

En personas con discapacidad se presentan las enfermedades prevalentes de la cavidad bucal con mayor frecuencia. Dentro de éstas, las alteraciones oclusales, como el apiñamiento dentario, son muy frecuentes y se considera responsable de exacerbar la patología gingival, periodontal y la estética, con impacto en la salud bucodental y la calidad de vida de estos pacientes. La técnica basada en el uso de placas alineadoras es sencilla, no invasiva y fundamentalmente preventiva de la enfermedad buco-dental (AU)

Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis.@*METHODS@#Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing.@*RESULTS@#A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2.@*CONCLUSION@#The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.

Lower limb amyoplasia in a Filipino female: A case report and a review of the literature

@#Amyoplasia is the most common form of arthrogryposis (multiple congenital contracture). It has an estimated incidence of one in 10,000 live births. Lower limb-amyoplasia is a specii c subtype with an estimated incidence of 1 in 75,000 - 100,000 live births. There are only 85 cases of lower limb amyoplasia identii ed in literature, and there are no published cases from the Philippines. We discuss a rare case of lower limb amyoplasia in an 11-year-old Filipino female presenting with additional unique features of severe scoliosis (managed with spine correction surgery) and multiple skin dimples in the gluteal area. The study was performed according to the CARE guidelines for case reports.

Congenital abnormalities and arthrogryposis in newly born lambs in Al Muthanna province Iraq. Suspicion of Akabane virus infection / Anormalidades congênitas e artrogripose em cordeiros recém-nascidos na província de Al Muthanna, Iraque. Suspeita de infecção pelo vírus Akabane

Akabane virus, a member of the Orthobunyavirus genus in the family Bunyaviridae, causes congenital abnormalities and arthrogryposis with hydrocephalus or hydroencephaly in ruminants. This study intends to describe the clinical signs, gross and histopathological features seen in 25 affected lambs in an outbreak of congenital arthrogryposis with hydrocephalus or hydranencephaly in Al-Muthanna governorate, Iraq after a large number of stillbirths and musculoskeletal deformities from October 2017 to May 2018. Skeletal muscle hypoplasia was seen in the limbs of the affected lambs accompanied with severe arthrogryposis and gross visible brain malformations. In addition, fetal mummifications, stillbirths, and dead lambs were also seen. The most histopathological features in muscle fibers were degenerative lesions and absences of cross-striation accompanied with mild infiltration of neutrophils and mononuclear cells in severely affected lambs. The meninges of affected lambs revealed fused membranes with focal areas of fibrous thickenings and necrotic debris. In conclusion, according to clinical signs, gross and histopathological investigations, Akabane virus, a member of the Orthobunyavirus genus in the family Bunyaviridae, causes congenital abnormalities and arthrogryposis with hydrocephalus or hydroencephaly in ruminants and could be the cause of this outbreak, although future studies must be performed to confirm the etiology of this outbreak. Moreover, other causes of hydrocephalus or cerebellar malformation, such as Schmallenberg virus, bluetongue virus and border disease virus and teratogenic plants that lead to arthrogryposis, have to be investigated. Also, the authorities should take prevention and control measurements to stop the replication of arthropod vectors.(AU)

O presente trabalho descreve os sinais clínicos, as lesões macroscópicas e os aspectos histológicos observados em 25 cordeiros acometidos em um surto de artrogripose congênita com hidrocéfalo ou hidrocefalia registrado no Iraque, governadoria Al-Muthama após a ocorrência de nascimentos prematuros e deformidades músculo-esqueléticas no período compreendido entre outubro de 2017 e maio de 2018. A hipoplasia músculo-esquelética foi observada nos membros dos cordeiros afetados, acompanhada de severa artrogripose e malformações cerebrais, grosseiras visíveis, além de mumificações fetais, nascimentos prematuros e morte de cordeiros. Os principais aspectos histopatológicos nas fibras musculares foram lesões degenerativas e ausências da estriação cruzada acompanhada de leve infiltração de neutrófilos e células mononucleares dos cordeiros severamente afetados. As meninges dos cordeiros afetados apresentaram fusão de membranas com áreas focais de espessamento fibroso e debris necróticos. O vírus Akabane, um membro do gênero Orthobunyavirus, da família Bunyaviridae, causa anormalidades congênitas e artrogripose com hidrocéfalo e hidrocefalia em ruminantes e poderá vir a ser a causa do presente surto. Os autores recomendam a realização de novos estudos com investigações epidemiológicas e isolamento do agente causal. Contudo, outras causas de hidrocéfalo ou malformações cerebrais como as determinadas pelo vírus Schmallenberg, vírus da língua azul e vírus da doença de border, bem como de plantas teratogênicas que determinam a artrogripose, também deverão ser investigadas. As autoridades sanitárias deverão tomar medidas de prevenção e controle para bloquear a replicação do vírus em artrópodes vetores.(AU)

Biplanar carpal wedge osteotomy in the treatment of the arthrogrypotic patients / Osteotomia intracárpica biplanar no tratamento de pacientes com artrogripose

ABSTRACT Objective: To describe the results of the surgical treatment of patients with congenital arthrogryposis with wrist deformity through biplanar carpal wedge osteotomy. Method: This study analyzed nine patients through a retrospective evaluation with severe deformity in flexion and ulnar deviation of the wrist in the period between January 2004 and December 2009. They were submitted to carpal osteotomy with a biplanar dorsal resection wedge, with a minimum evaluation of 48 months of postoperative evolution. In three patients the osteotomy was bilateral, totalling 12 cuffs analyzed. The indication for the technique described was deformity and stiffness for over six months, without improvement with the conservative treatment. Results: The mean age of the patients on the day of surgery was five years and eight months. The initial mean wrist mobility was 35°, and the joints presented a mean flexion of 72.5° in a resting position. Osteotomy union occurred in all patients at an average period of 5.7 weeks. The final position of the resting wrist was 12° of flexion and the mean mobility was 26.6°, slightly lower than preoperatively but in a much better position. No serious complications arising from surgery or in the immediate postoperative period were observed. Conclusions: Carpal osteotomy with biplanar dorsal resection wedge was useful and effective in helping to correct the deformities in flexion and ulnar deviation of the wrist, maintaining a reasonable mobility. It is a preservation surgery, which has low morbidity and avoids the progression of deformity and future degenerative changes.

RESUMO Objetivo: Descrever os resultados do tratamento cirúrgico de pacientes portadores de artrogripose congênita com deformidade do punho através da osteotomia intracárpica biplanar. Método: Por meio de uma avaliação retrospectiva, entre janeiro de 2004 e dezembro de 2009, o estudo avaliou nove pacientes com grave deformidade em flexão e desvio ulnar do punho por artrogripose submetidos a osteotomia intracárpica com cunha de ressecção dorsal biplanar, com avaliação mínima de 48 meses de evolução pós-operatória. Em três pacientes, a osteotomia foi bilateral, perfez 12 punhos analisados. A indicação da técnica descrita foi deformidade e rigidez havia mais de seis meses, sem melhoria com tratamento conservador. Resultados: A média de idade dos pacientes no dia da cirurgia foi de cinco anos e oito meses. A média de mobilidade inicial do punho foi de 35° e as articulações apresentavam 72,5° de flexão média em posição de repouso. Todas osteotomias consolidaram em um período médio de 5,7 semanas. A média da posição final do punho em repouso foi de 12° de flexão e a mobilidade média foi de 26,6°, ligeiramente inferior ao pré-operatório, porém mais bem posicionado. Não foram observadas complicações graves decorrentes da cirurgia ou no pós-operatório imediato. Conclusões: A osteotomia intracárpica com cunha de ressecção dorsal biplanar se mostrou útil e eficaz no auxílio da correção da deformidade em flexão e desvio ulnar do punho, com manutenção de uma mobilidade razoável. É uma cirurgia preservadora, com baixa morbidade e que evita a progressão da deformidade e alterações degenerativas futuras.

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica / Patient with association of nail-patella syndrome and multiple congenital arthrogryposis. Clinical radiological evolution

RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el cuadro clínico de cada una de ellas para poder identificar el origen de todas las afectaciones encontradas en el paciente, una vez alcanzada la adultez. Se presentó un paciente adulto tratado durante su infancia en el Hospital Pediátrico “Eliseo Noel Caamaño”, de Matanzas, con la asociación de ambas entidades, con el fin de observar su estado anatómico, funcional y radiológico actual. El objetivo fue estudiar la evolución clínico-radiológica del paciente a través del tiempo. Se concluyó que en este tipo de patologías se producen severas deformidades del Sistema Osteomioarticular, así como de otros sistemas, por lo que se requiere de un trabajo multidisciplinario y de un estricto seguimiento para lograr personas útiles a la sociedad a pesar de sus limitaciones físicas... (AU)

ABSTRACT The association of multiple congenital arthrogryposis with nail-patella syndrome is rare, because both pathologies are infrequent. Due to the great range of clinical radiological manifestations of both syndromes, it is necessary to know the clinical characteristics of each of them to identify the origin of these affections found in the patient after reaching the adulthood. It is presented an adult patient treated during the childhood in the Pediatric Hospital ¨Eliseo Noel Caamaño¨, of Matanzas, with the association of both entities, to observe his current anatomic, functional and radiological status. The aim was studying the patient´s clinical radiological evolution through the time. The conclusion we arrived at was that this kind of pathologies produce severe deformities of the Osteomyoarticular System and also of other systems, so it is required a multidisciplinary approach and a strict follow-up to offer the society useful persons in spite of their physical limitations...(AU)

Aspectos fonoaudiológicos em um caso de artrogripose de cabeça e pescoço pediátrico / Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis

RESUMO A artrogripose é uma síndrome múltipla congênita rara que se caracteriza por uma série de malformações congênitas e enrijecimento e contrações articulares e não possui caráter progressivo. Trata-se de um estudo de caso clínico, cujo objetivo é descrever a manifestação funcional relacionada à fonoaudiologia através do processo de avaliação em um caso de artrogripose em pediatria. Foi realizada uma análise do prontuário clínico de um paciente desde o nascimento, bem como uma avaliação clínica completa de investigação de disfagia pediátrica, na qual foi estabelecido o diagnóstico de disfagia orofaríngea de grau grave, apontada por alterações no exame funcional e estrutural. Associa-se ao quadro, uma perda auditiva.

ABSTRACT Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments. Hearing loss was detected in association with this condition.

Nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius: una revisión sistemática / Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review

Resumen: Antecedentes: El pie equino varo aducto congénito (PEVAC) es una malformación musculoesquelética común que afecta de uno a 4.5 de cada 1,000 nacidos vivos; se asocia de manera común a artrogriposis y síndrome de Moebius; éstos son más difíciles de tratar y requieren de tratamientos quirúrgicos agresivos para lograr un pie plantígrado; por lo tanto, ¿cuál es el nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius? Métodos: Estudio de diseño de revisión sistemática de acuerdo a las recomendaciones del grupo Cochrane por medio de la identificación de Medical Subject Headings (MeSH) y del método booleano para ubicar artículos que cumplieran con los criterios de selección mediante búsqueda de fuentes primarias como OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. Resultados: En total, seis artículos cumplieron con los criterios de selección a través de la búsqueda de fuentes primarias: cinco de ellos sobre el tratamiento del PEVAC con método de Ponseti en pacientes con artrogriposis y uno para pacientes con Moebius. Se encontraron artículos con niveles de evidencia y grado de recomendación: IV-D (3), III-D (1) y II (B). Conclusiones: El método de Ponseti es un tratamiento inicial en artrogriposis y síndrome de Moebius; es barato, no invasivo y no requiere de un médico para poderse realizar (pero sí un personal capacitado); se recomienda su uso para evitar cirugías extensas y complicaciones médicas que trascienden al orden económico intrahospitalario.

Abstract: Background: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome. Methods: Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. Results: A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B). Conclusions: The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals' economic possibilities.

Fractura de fémur en un paciente con deformidad « dog-leg ¼ secundaria a artrogriposis. Descripción de un método único de osteosíntesis / Femur fracture in a patient with dog-leg deformity secondary to arthrogryposis. Description of a unique osteosynthesis method

Resumen: El concepto «artrogriposis¼ agrupa varias enfermedades cuya característica común es la presencia de múltiples contracturas congénitas. La rodilla se afecta con frecuencia y es causa importante de morbilidad en estos pacientes. Las contracturas en flexión de la rodilla son más comunes y tienen peor pronóstico que las contracturas en extensión. Existen diferentes técnicas de tratamiento para la contractura en flexión de la rodilla; la osteotomía distal de extensión femoral corrige eficazmente la flexión fija, pero puede dar lugar a una deformidad residual. Esta deformidad iatrogénica altera la convexidad anterior de la diáfisis femoral y conlleva problemas graves en el manejo posterior de patología ortopédica. Se presenta el caso de una paciente con artrogriposis y una deformidad en fémur con una fractura en la región supracondílea. El manejo de la fractura fue dificultoso por la presencia de una distorsión de la arquitectura normal del fémur. En nuestro trabajo se describe el método de osteosíntesis utilizado para hacer frente a la fractura y a la deformidad previa de la paciente.

Abstract: The concept of arthrogryposis encompasses several conditions that share the presence of multiple congenital contractures. The knee is frequently involved and is an important cause of morbidity in these patients. Flexion contractures of the knee are the most common ones and have a worse prognosis than extension contractures. Different approaches are available to treat flexion contractures of the knee. Distal femoral extension osteotomy effectively corrects fixed flexion, but may lead to residual deformity. This iatrogenic deformity disrupts the anterior convexity of the femoral shaft and leads to serious problems in the subsequent management of orthopedic conditions. This is a case report of a patient with arthrogryposis and a femur deformity who sustained a supracondylar fracture. Managing the fracture was challenging due to a disruption in the normal architecture of the femur. This is a description of the osteosynthesis approach used to treat the fracture and the patient's pre-existing deformity.

Congenital multiple arthrogryposis in bovine / Artrogripose congênita múltipla em bovino

This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder), thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.(AU)

Este relato de caso descreve atresia anal, alteração anatômica da uretra (inserida caudalmente ao úbere), articulações espessadas e alterações na pelve em um neonato bovino da raça Holandesa. A visualização da porção final do reto não foi possível pelo acesso perineal, e laparotomia através do flanco direito foi feita para exploração abdominal e realização da colostomia. Durante o procedimento cirúrgico, foram observadas ruptura visceral e malformações incompatíveis com a vida, então os cirurgiões optaram pela eutanásia e necropsia. Alterações foram confirmadas nos tratos geniturinário e gastrointestinal. A não formação do ânus causou dilatação da porção distal do reto com retenção fecal, desviando ao corpo do útero, o qual possibilitou a entrada de mecônio nesse compartimento, além de outras alterações devido à ingestão e alteração no trânsito gastrointestinal. Essa quantidade de alterações anatômicas e clínicas foi diagnosticada como artrogripose congênita múltipla.(AU)

A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita

Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.

Zika virus congenital syndrome: experimental models and clinical aspects

Viral infections have long been the cause of severe diseases to humans, increasing morbidity and mortality rates worldwide, either in rich or poor countries. Yellow fever virus, H1N1 virus, HIV, dengue virus, hepatitis B and C are well known threats to human health, being responsible for many million deaths annually, associated to a huge economic and social cost. In this context, a recently introduced flavivirus in South America, called Zika virus (ZIKV), led the WHO to declare in February 1st 2016 a warning on Public Health Emergency of International Concern (PHEIC). ZIKV is an arbovirus of the Flaviviridae family firstly isolated from sentinels Rhesus sp. monkeys at the Ziika forest in Uganda, Africa, in 1947. Lately, the virus has well adapted to the worldwide spread Aedes aegypti mosquito, the vector for DENV, CHIKV, YFV and many others. At first, it was not considered a threat to human health, but everything changed when a skyrocketing number of babies born with microcephaly and adults with Guillain-Barré syndrome were reported, mainly in northeastern Brazil. It is now well established that the virus is responsible for the so called congenital Zika syndrome (CZS), whose most dramatic features are microcephaly, arthrogryposis and ocular damage. Thus, in this review, we provide a brief discussion of these main clinical aspects of the CZS, correlating them with the experimental animal models described so far.(AU)