RESUMO
INTRODUCTION AND IMPORTANCE: Polybrachysyndactyly is the combination of malformations and is considered a congenital anomaly that is very difficult to treat. In addition to presenting as a disabling entity, it is a reason for little acceptance under the aesthetic standards established by society. CASE PRESENTATION: 6-year-old male patient with polybrachysyndactyly in all 4 extremities. The parents rejected surgery at a younger age, however, the social/aesthetic pressure exerted on the patient at school and the child's inability to perform activities in a common way, motivated them to make a new decision. CLINICAL DISCUSSION: Different surgical techniques were used on all four extremities. A soft tissue technique was performed on the pinkies of both feet and ray cuts to correct syndactyly of both thumbs of the feet and middle fingers of both hands, and excision. Extirpations were obtained: one thumb of the right foot, one thumb of the left foot and two middle fingers (one of each hand). He was discharged after recovery from surgery. CONCLUSION: Cases of polysyndactyly are considered extremely rare, the first thing to evaluate is the presence of other signs that could be part of a syndromic association in order to proceed with surgical intervention that allows the patient to lead a life as far away from aesthetic stigmas that could damage his mental health. EVIDENCE BASED MEDICINE RANKING: Level IV.
RESUMO
Mirror foot is a rare congenital anomaly on to the spectrum of complex foot polydactyly. It may occur in isolation or associated with other malformations or genetic syndromes. This is a subject little described in the literature, with few publications on its treatment. We herein report the case of a 4-year-old female patient who presented with a left foot with 8 fingers, without other associated deformities, whose complaints included the impossibility of wearing shoes and social stigma. Radiographically, eight metatarsi with their respective phalanges, five cuneiform bones, and absence of bone deformities in the hindfoot were verified. The surgical approach was chosen in order to promote functional and esthetic improvement, as well as a better adaptation to the use of closed shoes, according to the patient's and family's desire. A dorsal and plantar V incision was performed, with resection of three supranumerary rays, including three central metatarsi with their nine corresponding phalanges, two cuneiform bones, tendons and extra digital nerves, followed by suture of the intermetatarsal ligaments, preserving the fingers with normal appearance, decreasing the width of the foot, and maintaining proper support. The reduction was maintained through transmetatarsal fixation with Kirschner wires. The postoperative period went on with the use of a walking boot and zero load, without complications, with removal o the Kirschner wires and allowing load on the limb after twelve weeks.
RESUMO
Abstract Mirror foot is a rare congenital anomaly within the spectrum of complex polydactyly of the foot. It can occur alone or with other malformations or genetic syndromes. It is a little described topic in the literature, with few publications on its treatment. We report the case of a 4-year-old female patient who presented eight fingers on her left foot and no other associated deformities. Her complaints included the impossibility of wearing closed shoes and social stigma. Radiography revealed eight metatarsals with their respective phalanges, five cuneiform bones, and the absence of bone deformities in the hindfoot. We opted for a surgical approach aiming at functional and esthetic improvement, in addition to better adaptation to closed shoes, as desired by the patient and her family. We performed a dorsal and plantar "V" incision and resected three supernumerary rays, including three central metatarsals with their nine corresponding phalanges, two cuneiform bones, tendons, and excess digital nerves. Next, we sutured the intermetatarsal ligaments, preserving the fingers with a normal appearance, reducing the width of the foot, and preserving adequate support. Kirschner wires maintained the reduction by transmetatarsal fixation. During the postoperative period, the patient wore a boot splint with zero load with no complications. We removed the Kirschner wires and allowed load on the limb after 12 weeks.
Resumo O pé em espelho é uma anomalia congênita rara, pertencente ao espectro das polidactilias complexas dos pés. Pode ocorrer isoladamente ou associado a outras malformações ou síndromes genéticas. Trata-se de um tema pouco descrito na literatura, com escassas publicações acerca do seu tratamento. Relatamos o caso de uma paciente do sexo feminino, de 4 anos de idade, que apresentava pé esquerdo com 8 dedos, sem outras deformidades associadas, cuja queixa incluía impossibilidade do uso de calçados fechados e estigma social. Radiograficamente, verificou-se a presença de oito metatarsos com suas respectivas falanges, cinco ossos cuneiformes e ausência de deformidades ósseas no retropé. Optou-se pela abordagem cirúrgica visando uma melhoria funcional e estética, bem como melhor adaptação ao uso de calçados fechados, conforme desejo da paciente e de sua família. Foi realizada incisão em "V" dorsal e plantar com ressecção de três raios supranumerários, incluindo três metatarsos centrais com suas nove falanges correspondentes, dois ossos cuneiformes, tendões e nervos digitais excedentes, seguida da sutura dos ligamentos intermeta-tarsais, com preservação dos dedos com aparência normal, diminuição da largura do pé e manutenção do seu apoio adequado. A redução foi mantida por fixação transmetatarsal com fios de Kirschner. O pós-operatório seguiu com o uso de tala bota e carga zero, sem intercorrências; os fios de Kirschner foram retirados, e a carga no membro foi liberada após 12 semanas.
RESUMO
In skeletal dysplasias, there are short rib polydactyly syndromes, which traditionally differentiate into four lethal types. This report describes a case of Type III, which presented characteristics of Types I and II. A 38-year-old woman presented fetal growth restriction at 17 weeks and 6 days, decreased amniotic fluid, enlarged and hyperechogenic kidneys, and long bones below the 3rd percentile. Three weeks later, she developed anhydramnia. The couple did not consent to the performance of an invasive test for genetic diagnosis and chose to maintain the pregnancy. At 33 weeks, due to premature labor and interactivity, a cesarean section was performed, giving birth to a female baby, who died due to respiratory failure there were no vocal cords and no trachea visible at laryngoscopy. On physical examination, he had the phenotypic characteristics of the syndrome. An X-ray showed short ribs and severe pulmonary hypoplasia. After birth, the parents chose not to carry out a genetic study or an anatomical examination. Researchers have suggested that there is an intersection of the anatomical changes of the types. This case report supports this theory.
En las displasias esqueléticas, existen síndromes de polidactilia de costillas cortas, que tradicionalmente se diferencian en cuatro tipos letales. Este reporte describe un caso del tipo III, que presentó características de los tipos I y II. Mujer de 38 años con restricción del crecimiento fetal a las 17 semanas y 6 días, líquido amniótico disminuido, riñones agrandados e hiperecogénicos y huesos largos por debajo del percentil 3. Tres semanas después, desarrolló anhidramnia. La pareja no consintió en la realización de una prueba invasiva de diagnóstico genético y optó por mantener el embarazo. A las 33 semanas, debido al parto prematuro y la interactividad, se realizó una cesárea, dando a luz a un bebé, que murió debido a una insuficiencia respiratoria: no había cuerdas vocales ni tráquea visible en la laringoscopia. Al examen físico presentaba las características fenotípicas del síndrome. Una radiografía mostró costillas cortas e hipoplasia pulmonar severa. Después del nacimiento, los padres optaron por no realizar un estudio genético ni un examen anatómico. Los investigadores han sugerido que existe una intersección de los cambios anatómicos de los tipos. Este reporte de caso apoya esta teoría.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Síndrome de Costela Curta e Polidactilia/diagnósticoRESUMO
BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
Assuntos
Anus Imperfurado , Idade Paterna , Polidactilia , Humanos , Masculino , Anus Imperfurado/epidemiologia , Fatores de Risco , América do Sul/epidemiologia , Polidactilia/epidemiologiaRESUMO
Happle-Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in SMO gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.
Assuntos
Condrodisplasia Punctata , Hamartoma , Hiperpigmentação , Anormalidades da Pele , Humanos , Animais , Ouriços , Hiperpigmentação/diagnóstico , Hiperpigmentação/genética , FenótipoRESUMO
Ulnar dimelia is an infrequent congenital anomaly of the upper limb characterized by the duplication of the ulna, absence of the radial ray, and polydactyly. We report on 2 cases of young girls with upper limb abnormalities who were brought to our Advanced Imaging Department for specialized imaging evaluation. The first case is a 15-month-old girl with a typical manifestation of ulnar dimelia. X-ray images of her right forearm and hand showed 2 ulnar-like bones, absence of the radial ray, and post-axial polydactyly. Our second case is a 7-year-old girl with evident limited pronosupination and shortening of the left forearm. Findings from computed tomography evaluation included ulnar duplication, one of which had a bifid aspect, with characteristics that are similar to ulnar proximal and distal epiphysis. The latter case which, to the best of our knowledge, has not been reported in the literature, is a rare variant of ulnar dimelia, that we have called ulnar trimelia . In this contribution, we emphasize the importance of an adequate diagnostic imaging approach for accurate recognition of upper limb anomalies, so that the treatment selection is appropriate to achieve better health outcomes and improve patients' quality of life. Our descriptions and images presented in this contribution form the basis for further research.
RESUMO
RESUMEN La polidactilia es una anomalía congénita caracterizada por la existencia de dedos supernumerarios o bífidos. Esta puede presentarse aislada o asociada a otras malformaciones formando parte de algunos síndromes conocidos. El presente trabajo tiene como objetivo mostrar los resultados quirúrgicos de dos pacientes en edad pediátrica que tuvieron mayor grado de complejidad, de raza negra africana, los cuales presentaban polidactilia y fueron operados por galenos cubanos en la ciudad de Gaborone, en Botswana. Los dos pacientes tenían patrón de herencia autosómica dominante. El tratamiento quirúrgico logró armonía y simetría en miembros superiores e inferiores con buenos resultados estéticos y funcionales.
ABSTRACT Polydactyly is a congenital anomaly characterized by the existence of supernumerary or bifid fingers. This can occur isolated or associated with other malformations as part of some known syndromes. The objective of this research is to show the surgical results of two pediatric patients with a higher degree of complexity, black Africans, who presented polydactyly and were operated on by Cuban doctors in Gaborone city, Botswana. Both patients had an autosomal dominant pattern of inheritance. Surgical treatment achieved harmony and symmetry in upper and lower limbs with good aesthetic and functional results.
RESUMO
BACKGROUND: Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relative geographic isolation, Puerto Rico has a greater prevalence of Bardet-Biedl syndrome than do other regions. We sought to characterize the most frequent genotypic variations in a local cohort of Bardet-Biedl syndrome patients and report any genotypic-phenotypic trends. METHODS: Twenty-seven patients from an ophthalmology clinic in Puerto Rico with genetically confirmed Bardet-Biedl syndrome took a questionnaire inquiring about their most common symptoms. Ophthalmological information was obtained from patient records. The frequencies of the genotypic variations and symptoms were calculated. RESULTS: In the study population, BBS1 was the most prevalent mutated gene, followed by BBS7. In the BBS1 group, we found homozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), and compound heterozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), with one patient having c.1645G>T (p.Glu549*) and c.432+1G>A (splice donor). All the BBS7 patients were homozygous for c.632C>T (p.Thr211Ile). Compared to BBS7, we found that BBS1 patients generally had a milder ocular and systemic phenotype. However, when analyzing different BBS1 variants, patients with mutations in c.1645G>T (p.Glu549*), both compound heterozygous and homozygous, had more severe systemic phenotypes, overall. CONCLUSION: Our study was the first detailed genotype-phenotype analysis of the Bardet-Biedl syndrome in Puerto Rico. Genetic mutations in BBS1 and BBS7 seem to be the most common culprits behind Bardet-Biedl syndrome in this population. Although patients diagnosed with BBS1 are likely to display milder systemic features, this was not the case with our BBS1 patients having the c.1645G>T (p.Glu549*) mutation. Further studies should focus on the c.1645G>T (p.Glu549*) mutation's impact on the BBS1 gene and protein product.
RESUMO
RESUMEN Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1. Presentación de caso: se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor. Conclusiones: se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.
ABSTRACT Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1. Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development. Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.
RESUMO
In the 2010-2014 period, the mean prevalence of congenital anomalies (CA) in the world was estimated at 398/10,000 births. CA are an important cause of mortality, disability, and comorbidity. Thus, the present study aims to describe the geographical and temporal distributions of live births and infant mortality (IM) due CA (IM-CA) in Brazil, from 2012 to 2017. The data used in this study is available at the Department of Informatics of the Unified Health System (DATASUS). The prevalence of CA at birth was 81.67/10,000 (95% CI 80.46-82.88), and the IM-CA rate was 27.97/10,000 (95% CI 27.95-28.00) in the studied period. The five CA with the highest rates were polydactyly (9.66/10,000, 95% CI 6.10-9.82), Down syndrome (3.40/10,000, 95% CI 3.41-5.99), microcephaly (2.92/10,000, 95% CI 2.91-3.12), hydrocephalus (2.72/10,000, 95% CI 2.65-2.90), and spina bifida (2.44/10,000, 95% CI 2.43-2.64). São Paulo was the Brazilian state with the highest CA birth rate (119.3/10,000), and Amazonas was the state with the highest IM-CA rate (33.8/10,000). The description and data analyses such as those performed in this work are relevant for healthcare systems and can be very useful in the formulation of public health campaigns and policies, as well as informing and educating professionals and the population. The management of clinical actions should consider all social, economic, geographic, and epidemiological factors.
RESUMO
Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.
Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.
Assuntos
Humanos , Feminino , Criança , Anormalidades Congênitas , Síndrome de Ellis-Van Creveld , Sinais e Sintomas , Volição , Displasia Ectodérmica , Técnicas de Diagnóstico Molecular , Genes , Cardiopatias Congênitas , MutaçãoRESUMO
Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6.08/10,000 in Argentinians. Genetic-ethnic background significantly affects worldwide prevalence and type of I-PAP. Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). The main characteristics analyzed included total I-PAP, stratified in Types A and B, defined as complete or incomplete extra-digit formation, respectively, sex prevalence, affected limb, laterality, parity, prematurity, delivery-type, twinning, consanguinity, and parental age. Males (6.35/10,000) are significantly more frequently affected than females (5.45/10,000), hands more than feet, left more than right limbs, and Type B (74.50%) more than A (25.50%). Prematurity and forceps use were significantly more frequent in cases than controls. An evident decreasing time-trend prevalence was present. Similar findings with other studies were males, upper and left limbs more frequently affected. Findings that were not previously reported include prematurity, forceps use, a significant decreasing time trend and an inverse ethnic prevalence for Types A (75%) and B (25%) in the Mayan population in contrast to other worldwide ethnic groups.
Assuntos
Dedos/anormalidades , Pé/patologia , Mãos/patologia , Polidactilia/epidemiologia , Polidactilia/genética , Sistema de Registros , Dedos do Pé/anormalidades , Fatores Etários , Estudos de Casos e Controles , Consanguinidade , Etnicidade , Feminino , Dedos/patologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , México/epidemiologia , Paridade , Polidactilia/classificação , Polidactilia/patologia , Gravidez , Prevalência , Fatores Sexuais , Dedos do Pé/patologia , GêmeosRESUMO
Resumen: El síndrome de Ellis-van Creveld es una rara anormalidad genética autosómica recesiva causada por mutaciones en el cromosoma 4p16. Presenta una tétrada típica: condrodistrofia, polidactilia postaxial, displasia ectodérmica y cardiopatía congénita, siendo esta última la principal determinante de la mortalidad. Desde que fue descrito en 1940, se han registrado 150 casos en la literatura científica; en Sudamérica son pocos los casos registrados y en Ecuador no se encontró ningún caso publicado. Se presenta un paciente asintomático de 20 años que acude a un control médico de rutina donde se evidencia un soplo cardíaco.
Summary: Ellis-van Creveld syndrome is a rare autosomal recessive disorder. It is caused by a mutation in 4p16 chromosome. It is characterized by a classical tetrad: chondrodystrophy, postaxial polydactyly, ectodermal dysplasia, and congenital heart defect. The congenital heart defect is the main determinant of mortality. Ellis-van Creveld syndrome was described in 1940; it has been registered 150 case reports. There are few reports in South America. In Ecuador, it wasn't found case reports. A 20 years old asymptomatic patient is presented, who goes to routine health care and is found to have a heart murmur.
Resumo: A síndrome de Ellis-van Creveld é uma esquisita doença autossômica recessiva. É causada por uma mutação no cromossomo 4p16. É caracterizada por quatro sinais típicas: condrodistrofia, polidactilia pós-axial, displasia ectodérmica e cardiopatia congênita. O defeito cardíaco congênito é o principal determinante da mortalidade. Desde que foi descrito em 1940 tenham sido registrados 150 relatos de caso. Na America do Sul existem poucos relatos, e no Equador não se encontrou nenhum publicado. É apresentado um paciente assintomático de 20 anos que vai para o controle médico de rotina, onde é encontrada uma bulha cardíaca.
RESUMO
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature. We collected the clinical data of the patient and, after obtaining the informed consent, we conducted a multigenic sequencing panel oriented to known implicated genes. The patient was born to consanguineous parents and was the first affected member of the family. He presented with postaxial polydactyly, obesity, micropenis, retinitis pigmentosa, and learning disability. The multigenic panel allowed the identification of the homozygous pathogenic variant c.39_46del in the BBS10 gene and in other BBS genes variants associated with obesity. As the Bardet-Biedl syndrome is a rare disease, it is challenging to interpret its pleiotropism and gene/allelic heterogeneity. Its confirmation by molecular tests allows an adequate approach, follow-up, and genetic counseling of the patient and the family.
Assuntos
Síndrome de Bardet-Biedl/genética , Chaperoninas do Grupo II/genética , Adolescente , Chaperoninas , Consanguinidade , Análise Mutacional de DNA , Genes Recessivos , Homozigoto , Humanos , Masculino , Linhagem , Deleção de SequênciaRESUMO
Resumen El síndrome de Bardet-Biedl es una enfermedad hereditaria, autosómica recesiva, con gran heterogeneidad de locus, que pertenece a las denominadas ciliopatías, denominadas así por la deficiencia funcional presente y porque las proteínas afectadas se localizan en el cilio primario. El síndrome afecta múltiples sistemas, con compromiso visual, renal, cognitivo, esquelético y gonadal, y obesidad. Este síndrome presenta una gran variabilidad intrafamiliar e interfamiliar. Se presenta el caso clínico de un paciente adolescente con diagnóstico de síndrome de Bardet-Biedl, así como su manejo, los resultados de la secuenciación de 22 genes y el análisis actualizado de la literatura médica. Se recopiló la información clínica y, previo consentimiento informado, se hizo la prueba de panel de secuenciación multigénica de los genes implicados. El paciente es hijo de la unión de personas consanguíneas. Fue el primer afectado en la familia y presentaba polidactilia posaxial, obesidad, micropene, retinitis pigmentaria y dificultades de aprendizaje. En el panel multigénico, se identificó la variante patogénica homocigótica c.39_46del en el gen BBS10 y otras variantes de genes BBS asociadas con la obesidad. Dado que el síndrome de Bardet-Biedl es una enfermedad huérfana rara, interpretar el pleiotropismo y la heterogeneidad de locus y de alelos, constituye un reto. La confirmación molecular permite el manejo adecuado de los pacientes, así como el seguimiento y el asesoramiento genético apropiados.
Abstract The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature. We collected the clinical data of the patient and, after obtaining the informed consent, we conducted a multigenic sequencing panel oriented to known implicated genes. The patient was born to consanguineous parents and was the first affected member of the family. He presented with postaxial polydactyly, obesity, micropenis, retinitis pigmentosa, and learning disability. The multigenic panel allowed the identification of the homozygous pathogenic variant c.39_46del in the BBS10 gene and in other BBS genes variants associated with obesity. As the Bardet-Biedl syndrome is a rare disease, it is challenging to interpret its pleiotropism and gene/allelic heterogeneity. Its confirmation by molecular tests allows an adequate approach, follow-up, and genetic counseling of the patient and the family.
Assuntos
Adolescente , Humanos , Masculino , Síndrome de Bardet-Biedl/genética , Chaperoninas do Grupo II/genética , Linhagem , Análise Mutacional de DNA , Deleção de Sequência , Chaperoninas , Consanguinidade , Genes Recessivos , HomozigotoRESUMO
A review of the bioarchaeological collections from the site Morro de Arica in northern Chile allowed the identification of two cases of human polydactyly. Both cases are from the Chinchorro culture, hunters, fishers, and gatherers with a maritime orientation who inhabited the coast of the Atacama Desert (9000-3400â¯BP). Additionally, the analyses of 75 rock art sites in the area, from the Formative to Late Intermediate Periods (3000-550â¯BP), allowed the identification of hands and feet with six digits. Given the bioarchaeological record of polydactyly, it is highly probable that the rock art images were based on real individuals with polydactyly. However, the Sr chemical signal in a juvenile with polydactyly is the same as the Sr chemical signal in the rest of the individuals buried in the same site, proving that all the individuals were born and lived on the coast. We discuss the idea that, although these anomalies could have been the result of genetic mutations, endogamy and exposition to ecotoxic environments could also be at play within the Chinchorro groups.
Assuntos
Polidactilia/história , Adolescente , Chile , Exposição Ambiental , História Antiga , Humanos , Lactente , Masculino , Múmias , Polidactilia/etiologia , Estrôncio/análiseRESUMO
INTRODUCTION: Polydactyly is the most common congenital foot anomaly and consists of partial or complete duplication of a toe. Traditionally, surgical treatment has been amputation. There is little evidence when surgical treatment requires repairing the stabilizing structures of the metatarsophalangeal joint. OBJECTIVE: Assess the functional and radiologic outcomes of a case of postaxial polydactyly requiring plantar plate plate and medial collateral ligament reconstruction. METHODS: A 59-year-old female presented at clinic complaining from bilateral fifth toe polydactyly and metatarsalgia. A rudimentary extra toe with bony structures poorly developed was observed in the left foot. An excision was performed on the left foot. In the right foot, a fully developed extra digit was observed with medial and downwards deviation underneath the fourth metatarsal. RESULTS: Medial fifth-toe excision, plantar plate repair and medial collateral ligament reconstruction were performed due to malformation and widening of the distal surface of the plantar plate. Patient satisfaction and adequate functional status were observed at one-year follow-up. CONCLUSION: The plantar plate is the principal stabilizer of the MTP joint; therefore its reconstruction is of paramount importance for forefoot biomechanics.
RESUMO
PURPOSE: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. METHODS: Thirty-one patients with duplicated thumbs were surgically treated from January 2002 to April 2008 and 19 of them, who had returned during the late postoperative period, were evaluated. Each case was typed according to Wassel's classification into seven types and the most common category was type IV. Removal of radial component was done in 18 patients aged on average 51 months. RESULTS: Patients and parents were satisfied with both the functional results and the appearance of the reconstructed thumb. In the subjective evaluation of residual deformities, axis deviation and residual prominence were commonly found. There were coherencies in data between both subjective and objective outcomes. The children that had difficulty in holding very small objects in the subjective functional result were the same children with residual deformities in the objective result. Patient's age at surgery and Wassel's type influenced the analysis of residual postoperative deformities. There was statistically significant difference in cases of type VII and in patients operated at more than three years of age. Correlation between type VII and patient's age at time of surgery was found. The children with type VII duplication were operated later. CONCLUSIONS: For a better result, surgical correction should be performed before three years of age, thus correcting all the changes detected, mainly in type VII, in order to reduce the incidence of residual deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Assuntos
Amputação Cirúrgica , Deformidades da Mão , Procedimentos de Cirurgia Plástica , Polidactilia , Complicações Pós-Operatórias , Amputação Cirúrgica/efeitos adversos , Amputação Cirúrgica/métodos , Brasil , Criança , Pré-Escolar , Feminino , Deformidades da Mão/diagnóstico , Deformidades da Mão/etiologia , Deformidades da Mão/fisiopatologia , Deformidades da Mão/psicologia , Humanos , Masculino , Satisfação do Paciente , Polidactilia/diagnóstico , Polidactilia/cirurgia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/psicologia , Radiografia/métodos , Procedimentos de Cirurgia Plástica/efeitos adversos , Procedimentos de Cirurgia Plástica/métodos , Recuperação de Função Fisiológica , Polegar/anormalidades , Polegar/diagnóstico por imagem , Polegar/cirurgia , Resultado do TratamentoRESUMO
Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. IFT122 is a gene that encodes a protein responsible for the retrograde transport along the cilium; it has been associated with this group of skeletal dysplasias. To date, mutations in this gene were only found in Sensenbrenner syndrome. Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 ([c.3184G>C];[c.3228dupG;c.3231_3233delCAT]) in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement.