Were camptodactyly and boutonniere deformity considered pathological in late fifteenth century Italy? Evidence from the sculptures of Francesco di Simone Ferrucci (1437-1493).

Representations of disease in Renaissance paintings have been discussed in medical literature, in the context of historical epidemiology, as potential sources of information about the incidence and appearance of particular conditions in earlier times. The present study seeks to show how Renaissance art can also contribute to historical nosology by casting light on the question of whether particular conditions recognized as abnormal today were understood as pathological in the past. The hands of two Renaissance Madonna figures are examined in sculptures produced by Francesco di Simone Ferrucci (1437-1493). Because the Virgin Mary was considered physically perfect by believers, and because Francesco was a successful producer of devotional sculptures for a wide audience, it is highly probable that any abnormal conditions found in the hands of Madonnas sculpted by him would not have been regarded as pathological at the time. The sculptures examined appear to depict camptodactyly and boutonniere deformity in the hands of Madonna figures. These uncommon conditions are also found in Renaissance artworks that show other individuals of high social status, but their presence in the hands of the Madonna gives the strongest indication that they were not considered pathological, due to religious belief in the Virgin's physical perfection. Examination of Madonna figures in late fifteenth century Renaissance art can contribute to historical nosology by identifying abnormal conditions that were not regarded as pathological at the time. The examples of such conditions identified in the present study are camptodactyly and boutonniere deformity.

Conservative Treatment of Camptodactyly with use of Orthoses: A Retrospective Cohort.

Objective To evaluate the outcomes of conservative treatment using static orthoses manufactured by the Occupational Therapy Sector of our institution in participants with camptodactyly types I, II, and III in their rigid or flexible forms, to describe the demographic and clinical data, and to analyze the number of dropouts during the treatment period. Methods The Ethics in Human Research Committee approved the project under protocol number CAAE 20300419.3.0000.5273. All medical records used in the research were made available by our institution. In the present retrospective study, we did not use the informed consent form due to the impossibility of contacting the high number of participants. The study included medical records of 38 participants treated at the Occupational Therapy Outpatient Clinic from 2013 to 2019. Results Of the 54 fingers treated with orthoses, 38 were completely corrected. The rates of correction were as follows: type I in its rigid form - 100% type I in its flexible form - 81.2%; type II in its rigid form - 0%; type II in its flexible form - 100%; type III in its rigid form - 47.6%; and type III in its flexible form - 100%. Of the 93 fingers included in this study, 42% abandoned the treatment. Conclusion Static orthoses are a safe alternative to surgical procedures, with low execution complexity for camptodactyly treatment.

Conservative Approach to Type III Ulnar Club Hand: Case Report.

Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

Prevalence of Absence of Palmaris Longus Tendon in a Population Sample from a Multiethnic Brazilian City.

Objective The objective of the study was to determine the prevalence of absence of palmaris longus tendon in a population sample from a multiethnic Brazilian city. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The absence of palmaris longus tendon was determined by asking the volunteers to perform the Schaeffer test bilaterally. Results We prospectively collected data on 1,008 volunteers, 531 male and 477 female, with age between 18 and 74 years (mean 38.4 years). The absence of palmaris longus tendon was observed in 264 (26.2%) volunteers. Bilateral absence was detected in 123 volunteers (12.2%), 60 female (48.8%) and 63 male (51.2%). Unilateral absence was found in 141 patients (14.0%), 54 female (38.2%) and 87 male (61.8%) ( p < 0.05). Conclusion The prevalence of absence of palmaris longus tendon in our study was 26.2%. There was no statistically significant difference between gender and bilaterally. The absence of palmaris longus tendon was predominant on unilateral right side in males.

Conservative Treatment of Camptodactyly with use of Orthoses: A Retrospective Cohort / Tratamento conservador da camptodactilia com órteses: Coorte retrospectiva

Abstract Objective To evaluate the outcomes of conservative treatment using static orthoses manufactured by the Occupational Therapy Sector of our institution in participants with camptodactyly types I, II, and III in their rigid or flexible forms, to describe the demographic and clinical data, and to analyze the number of dropouts during the treatment period. Methods The Ethics in Human Research Committee approved the project under protocol number CAAE 20300419.3.0000.5273. All medical records used in the research were made available by our institution. In the present retrospective study, we did not use the informed consent form due to the impossibility of contacting the high number of participants. The study included medical records of 38 participants treated at the Occupational Therapy Outpatient Clinic from 2013 to 2019. Results Of the 54 fingers treated with orthoses, 38 were completely corrected. The rates of correction were as follows: type I in its rigid form - 100% type I in its flexible form - 81.2%; type II in its rigid form - 0%; type II in its flexible form - 100%; type III in its rigid form - 47.6%; and type III in its flexible form - 100%. Of the 93 fingers included in this study, 42% abandoned the treatment. Conclusion Static orthoses are a safe alternative to surgical procedures, with low execution complexity for camptodactyly treatment.

Resumo Objetivo Avaliar os resultados do tratamento conservador com o uso de órteses estáticas confeccionadas pelo Setor de Terapia Ocupacional da nossa instituição em participantes com camptodactilia dos tipos I, II e III, em suas formas rígida ou flexível, descrever os dados demográficos e clínicos, e avaliar o número de abandonos no período do tratamento. Métodos O projeto foi aprovado pelo Comitê de Ética em Pesquisa em Seres Humanos, com número de protocolo CAAE 20300419.3.0000.5273. Todos os prontuários utilizados na pesquisa foram disponibilizados pela nossa instituição. Não foi feito o uso de termo de consentimento livre e esclarecido (TCLE) para este estudo retrospectivo devido à impossibilidade de contactar o elevado número de participantes. Foram incluídos os prontuários de 38 participantes atendidos no Ambulatório de Terapia Ocupacional de 2013 a 2019. Resultados Dos 54 dedos tratados com órteses, 38 foram totalmente corrigidos. As taxas de correção foram as seguintes: tipo I na forma rígida -100%; tipo I na forma flexível -81,2%; tipo II na forma rígida - 0%; tipo II na forma flexível - 100%; tipo III na forma rígida -47,6%; e tipo III na forma flexível -100%. Do total de 93 dedos incluídos, 42% abandonaram o tratamento. Conclusão O uso de órteses estáticas é uma alternativa segura ao procedimento cirúrgico e de baixa complexidade de execução para o tratamento da camptodactilia.

Conservative Approach to Type III Ulnar Club Hand: Case Report / Abordagem conservadora da mão torta ulnar tipo III: Relato de caso

Abstract Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

Resumo A mão torta ulnar é uma rara afecção de membros superiores, cujo tratamento depende do grau de comprometimento morfológico e funcional, que se correlaciona com a classificação radiográfica de Dobyns, Wood e Bayne. O objetivo deste estudo é relatar um caso de um paciente de 6 anos de idade, do sexo masculino, acompanhado devido a mão torta ulnar do tipo III (aplasia total da ulna). Apesar da dificuldade inicial de manipular objetos e realizar tarefas cotidianas, o tratamento conservador fisioterapêutico propiciou o ganho de força e o desenvolvimento de habilidades funcionais para a vida diária. Concluímos que pacientes com deformidade do tipo III podem ser manejados adequadamente com reabilitação embora necessitem de seguimento ambulatorial até a maturidade esquelética, pois deformidades dinâmicas e novas limitações funcionais podem levar à necessidade de cirurgias corretivas.

[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].

A Marfan syndrome child with contractural arachnodactyly deformity of both hands was admitted to our unit in June 2015. The left and right middle fingers and ring fingers of the child received the continuous " Z" skin flap and " V-Y" plasty to reduce the palmar tension on the skin and release the contracture. Due to the improper therapeutic strategy and the underestimation of effect of underlying lesions of Marfan syndrome on the therapeutic strategy, the right middle finger of child was with ischemic necrosis and amputated, and the finger tip was accompanied with distension and paroxysmal neuropathic pain at a specified future date. The skin flaps of the other three surgical fingers were with local necrosis and scar healing. The child was complicated by distal interphalangeal joints stiffness and some serious complications post-discharge. Combined with this case, the similar disorders are not recommended to carry out one-stage operation.

Prevalence of Absence of Palmaris Longus Tendon in a Population Sample from a Multiethnic Brazilian City / Prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade brasileira multiétnica

Abstract Objective The objective of the study was to determine the prevalence of absence of palmaris longus tendon in a population sample from a multiethnic Brazilian city. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The absence of palmaris longus tendon was determined by asking the volunteers to perform the Schaeffer test bilaterally. Results We prospectively collected data on 1,008 volunteers, 531 male and 477 female, with age between 18 and 74 years (mean 38.4 years). The absence of palmaris longus tendon was observed in 264 (26.2%) volunteers. Bilateral absence was detected in 123 volunteers (12.2%), 60 female (48.8%) and 63 male (51.2%). Unilateral absence was found in 141 patients (14.0%), 54 female (38.2%) and 87 male (61.8%) (p < 0.05). Conclusion The prevalence of absence of palmaris longus tendon in our study was 26.2%. There was no statistically significant difference between gender and bilaterally. The absence of palmaris longus tendon was predominant on unilateral right side in males.

Resumo Objetivo O objetivo do presente estudo foi determinar a prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade multiétnica brasileira. Métodos Um estudo observacional transversal foi realizado entre outubro de 2017 e abril de 2018. Incluímos voluntários dos sexos masculino e feminino com 18 anos ou mais. A ausência do tendão palmaris longus foi determinada pedindo aos voluntários que realizassem o teste de Schaeffer bilateralmente. Resultados Foram coletados prospectivamente dados de 1.008 voluntários, 531 homens e 477 mulheres, com idade entre 18 e 74 anos (média de 38,4 anos). A ausência do tendão palmaris longus foi observada em 264 (26,2%) voluntários. A ausência bilateral foi detectada em 123 voluntários (12,2%), 60 mulheres (48,8%) e 63 homens (51,2%). A ausência unilateral foi encontrada em 141 pacientes (14,0%), 54 mulheres (38,2%) e 87 homens (61,8%) (p<0,05). Conclusão A prevalência de ausência do tendão palmaris longus em nosso estudo foi de 26,2%. Não houve diferença estatisticamente significativa bilateralmente e entre gêneros. A ausência do tendão palmaris longus foi predominante no lado direito unilateral no sexo masculino.

Evaluation of treatment for camptodactyly: retrospective analysis on 40 fingers.

OBJECTIVE: to retrospectively assess the results from cases treated in the hand surgery service, starting from a preestablished protocol; and to conduct a critical analysis on the results achieved, with separation of the cases into their respective subgroups. METHODS: twenty-three patients and a total of 40 fingers were evaluated between January 2004 and December 2011. We correlated the altered anatomical structures found in the cases that underwent the surgical procedure and its results, with regard to both conservative and surgical treatment, emphasizing the main indications. RESULTS: the results were analyzed using the Sierget method of the Mayo Clinic. CONCLUSION: we observed that the cases of camptodactyly of the little finger alone in the flexible form (>60°) that underwent surgical treatment uniformly presented excellent results. In the rigid forms, our observations indicated that there were benefits comprising gains of extension and correction of the deformity. However, the range of motion with active flexion in the proximal interphalangeal joint was always partial. With evolution over time, some cases presented some loss of the gain previously achieved, which corroborates the need for continual vigilance during the follow-up, with systematic use of braces until the final phase of skeletal growth.

OBJETIVOS: avaliar, retrospectivamente, os resultados dos casos tratados no serviço de Cirurgia da Mão, a partir de um protocolo preestabelecido; e fazer uma análise crítica dos resultados alcançados, com a separação dos casos em seus respectivos subgrupos. MÉTODOS: foram avaliados 23 pacientes, num total de 40 dígitos, de janeiro de 2004 a dezembro de 2011. Relacionamos as estruturas anatômicas alteradas encontradas nos casos que foram submetidos a procedimento cirúrgico e seus resultados, tanto no tratamento conservador como no cirúrgico, e enfatizamos suas principais indicações. RESULTADOS: os resultados foram analisados pelo método de Sierget da clínica Mayo. CONCLUSÃO: observamos que os casos de camptodactilia isolada do dedo mínimo na forma flexível, >60°, que foram submetidos a tratamento cirúrgico de maneira uniforme apresentaram resultados excelentes. Nas formas rígidas, nossas observações indicam benefícios com ganho de extensão e correção da deformidade. Entretanto, o arco de movimento com flexão ativa na interfalângica proximal (IFP) é sempre parcial. Com o tempo de evolução, alguns casos apresentaram alguma perda do ganho previamente alcançado, o que corrobora a permanente vigilância necessária no acompanhamento, com uso sistemático de órteses, até a fase final do crescimento esquelético.

Congenital syndactyly: case by case analysis of 47 patients.

OBJECTIVE: To assess and report clinical data from patients with syndactyly. METHODS: A retrospective review of 47 patients treated between April 2002 and April 2012. RESULTS: Among the 47 analyzed patients, 33 (70%) were male and 14 (30%) female. The total number of syndactylies was 116. The right hand was affected in 19 patients (40%), the left hand in 12 (24%) and 31 (36%) were bilaterally compromise. Sixteen patients (34%) also presented genetic syndromes. Among the 31 (66%) patients without syndromes, 12 (39%) had isolated syndactyly and 19 (61%) presented association with other hand anomalies. The third web space was affected 45 (39%) times; the fourth, 35 (30%) times; the second, 22 (19%) times and the first web space 14 (22%) times. Simple syndactyly was found 68 (59%) times, complete syndactyly in 44 (65%) and incomplete in 24 (55%). Complex syndactyly was found 48 (41%) times. CONCLUSION: The results in this study are similar to the literature. Epidemiological Study .

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report / Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

NOSOLOGY OF HAND DISEASES IN CHILDREN AND ADOLESCENTS OPERATED IN PROVISIONAL FACILITIES IN A MODEL HOSPITAL - PERNAMBUCO STATE, BRAZIL.

UNLABELLED: To report the frequencies of congenital hand diseases in patients who underwent surgery on a collective mobilization basis at SOS Hand, Recife, Pernambuco, between 2005 and 2009. METHODS: Information was collected from 833 children and adolescents who were examined in eight missions. RESULTS: Among the patients, 306 (36.7%) underwent surgery: 240 (78.4%) because of congenital malformation and 66 (21.6%) because of acquired lesions. The most frequent congenital malformations were: syndactyly, 72 cases (30.0%); polydactyly, 30 cases (12.5%); bifid thumb, 19 cases (7.9%); complex hand malformation, 14 cases (5.8%); cleft hand, 13 cases (5.4%); trigger finger, 12 cases (5.0%); camptodactyly, 11 cases (4.6%); and brachysyndactyly, 9 cases (3.7%). The most frequently acquired injuries were: obstetric traumatic lesions, 26 cases (39.4%); hand trauma sequelae, 18 cases (27.3%); cerebral paralysis sequelae, 7 cases (10.6%); electric shock sequelae, 5 cases (7.6%); and burn sequelae, 4 cases (6.1%). CONCLUSION: The nosology of hand diseases is similar to that of large series of elective surgery, especially regarding congenital deformities. The frequency of acquired hand lesions seems to be higher than the frequency in international series. The collective mobilization system for hand surgery is important for decreasing the need for this activity in public institutions, and it has been shown to be very efficient. The success of the project may provide support for the Brazilian National Health System to enroll hand surgeons in the on-call system, in emergency units.

Split-hand/foot malformation (SHFM) e manifestações atípicas: desafio diagnóstico / Split-hand/foot malformation (SHFM) and atypical manifestations: diagnostic challenge

A Split-hand/foot Malformation, muitas vezes aceita como sinônimo de ectrodactilia, é uma malformação com diferentes padrões de hereditariedade que pode se apresentar isoladamente ou como parte de síndromes de maior expressão clínica. Discutimos as peculiaridades do seu diagnóstico e das manifestações associadas ao quadro. Descrevemos o caso esporádico de um paciente com ectrodactilia que desenvolveu uma Síndrome Mielodisplásica associada a manifestações reumatológicas e a Trombose Venosa Profunda. Consideramos o paciente como portador da forma isolada da Split-hand/foot Malformation e as suas outras manifestações como consequências atípicas da Síndrome Mielodisplásica.

The Split-hand/foot Malformation often accepted as a synonym for ectrodactyly is a malformation with different patterns of heredity that can present it individually or as part of syndromes with most clinical significance. We discussed the peculiarities of their diagnosis and clinical manifestations associated with the condition presented. We describe a sporadic case of a patient with ectrodactyly who developed a myelodysplastic syndrome associated with rheumatic manifestations and Deep VeinThrombosis. We considered the patient as suffering from an isolated form of Split-hand/foot Malformation and its other manifestations as atypical consequences of myelodysplastic syndrome.

Análise casuística da sindactilia congênita: experiência com 47 pacientes / Congenital syndactyly: case by case analysis of 47 patients

OBJETIVO: Analisar e comparar as características dos pacientes com sindactilia congênita com os dados da literatura.MÉTODOS: Estudo retrospectivo baseado na análise do prontuário médico de 47 pacientes tratados em um período de 10 anos.RESULTADOS: Dos pacientes, 33 (70%) eram do sexo masculino e 14 (30%) do feminino. O número total de sindactilias foi de 116. A mão direita foi acometida em 19 casos (40%), a mão esquerda em 12 (24%) e em 17 (36%) o acometimento foi bilateral. Dezesseis (34%) pacientes possuíam síndromes genéticas. Entre os 31 (66%) não-sindrômicos, 12 (39%) apresentavam sindactilias isoladas e 19 (61%) associação com outras malformações da mão. O terceiro espaço foi acometido 45 (39%) vezes, seguido do quarto espaço com 35 (30%), do segundo com 22 (19%) e do primeiro com 14 (12%). As sindactilias simples foram encontradas 68 (59%) vezes, sendo completas em 44 (65%) situações e parciais em 24 (55%). As complexas foram identificadas 48 (41%) vezes.CONCLUSÃO: Os resultados obtidos na presente série são muito semelhantes aos dados encontrados na literatura. Estudo Epidemiológico.

OBJECTIVE: To assess and report clinical data from patients with syndactyly.METHODS: A retrospective review of 47 patients treated between April 2002 and April 2012.RESULTS: Among the 47 analyzed patients, 33 (70%) were male and 14 (30%) female. The total number of syndactylies was 116. The right hand was affected in 19 patients (40%), the left hand in 12 (24%) and 31 (36%) were bilaterally compromise. Sixteen patients (34%) also presented genetic syndromes. Among the 31 (66%) patients without syndromes, 12 (39%) had isolated syndactyly and 19 (61%) presented association with other hand anomalies. The third web space was affected 45 (39%) times; the fourth, 35 (30%) times; the second, 22 (19%) times and the first web space 14 (22%) times. Simple syndactyly was found 68 (59%) times, complete syndactyly in 44 (65%) and incomplete in 24 (55%). Complex syndactyly was found 48 (41%) times.CONCLUSION: The results in this study are similar to the literature. Epidemiological Study.

Nosologia das doenças da mão de crianças e jovens operados em mutirões realizados em hospital de referência no estado de pernambuco / Nosology of hand diseases in children and adolescents operated in provisional facilities in a model hospital - pernambuco state, Brazil

OBJETIVO: Relatar a frequência das doenças congênitas da mão operadas em sistema de mutirão no SOS Mão de Recife entre 2005 e 2009. MÉTODOS: Foram coletadas as informações de 833 crianças e adolescentes examinados em oito missões. RESULTADOS: Entre os pacientes, 306 (36,7 por cento) foram operados; 240 (78,4 por cento) por malformações congênitas e 66 (21,6 por cento) por lesões adquiridas. As malformações congênitas mais frequentes foram: sindactilia, 72 (30,0 por cento) casos; polidactilia, 30 (12,5 por cento) casos; polegar bífido, 19 (7,9 por cento) casos; malformação complexa da mão, 14 (5,8 por cento) casos; mão em fenda, 13 (5,4 por cento) casos; dedo em gatilho, 12 (5,0 por cento) casos; camptodactilia, 11 (4,6 por cento) casos; e braquisindactilia, nove (3,7 por cento) casos. As lesões adquiridas mais frequentes foram: lesões por trauma obstétrico, 26 (39,4 por cento) casos; sequela de trauma de mão, 18 (27,3 por cento) casos; sequela de paralisia cerebral, sete (10,6 por cento) casos; sequela de choque elétrico, cinco (7,6 por cento) casos; e sequela de queimadura, quatro (6,1 por cento) casos. CONCLUSÃO: A nosologia das doenças de mão é similar a de grandes séries de cirurgias eletivas, particularmente no que diz respeito às deformidades congênitas. As frequências das lesões adquiridas parecem ser mais altas do que as das séries internacionais. O sistema de mutirão de cirurgia de mão é importante para diminuir a carência dessa atividade em instituições públicas e tem se mostrado muito eficiente. O êxito do projeto pode oferecer subsídio para o Sistema Único de Saúde admitir cirurgiões da mão em sistema de plantão ou sobreaviso nas unidades de emergência.

OBJECTIVE: To report the frequencies of congenital hand diseases in patients who underwent surgery in a provisional clinic as part of the Hand of Recife SOS- Recife, Pernambuco, from 2005 to 2009. METHODS: The information was collected from 833 children and adolescents cared for in eight missions. RESULTS: Among the patients, 306 (36.7 percent) underwent surgery; 240 (78.4 percent) for congenital malformation, and 66 (21.6 percent) for acquired lesions. The most frequent malformations were: syndactyly, 72 (30.0 percent) cases; polydactyly, 30 (12.5 percent) cases; bifid thumb, 19 (7.9 percent) cases; complex hand anomaly, 14 (5.8 percent) cases; cleft hand, 13 (5.4 percent) cases; trigger finger, 12 (5.0 percent) cases; camptodactyly, 11 (4.6 percent) cases; and brachysyndactyly, 9 (3.7 percent) cases. The most frequent acquired injuries were: obstetric brachial plexus paralysis, 26 (39.4 percent) cases; hand trauma sequelae, 18 (27.3 percent) cases; cerebral paralysis sequelae, 7 (10.6 percent) cases; electrical shock sequelae, 5 (7.6 percent) cases; and hand burn injury, 4 (6.1 percent) cases. CONCLUSION: The nosology of hand diseases is, as a whole, similar to the great series of elective hand surgeries, especially regarding congenital hand abnormalities. The frequencies of acquired hand lesions seem to be higher than in the international series. The provisional clinic hand surgery system is important in decreasing the need for this activity in public institutions, and it has been shown to be very effective. The good outcomes of the missions may offer support for The Brazilian Health System to enroll hand surgeons in the on-call system in the emergency units.

Síndrome lacrimo-auriculo-dento-digital (LADD): relato de caso e revisão da literatura / The lacrimo-auriculo-dento-digital syndrome (LADD): case report and literature review

A síndrome de Levy-Hollister ou lacrimo-auriculo-dento-digital (LADD) é uma síndrome rara, de herança autossômica dominante, podendo ocorrer de forma isolada ou em várias gerações de uma mesma família. O diagnóstico é feito por meio da identificação de anormalidades do sistema lacrimal, como redução ou ausência de produção de lágrimas, alterações ósseas, dentárias, de glândulas salivares e orelha externa. Trata-se de uma criança, de 13 anos, em acompanhamento no Hospital do Servidor Público Estadual de São Paulo desde os cinco meses de idade, com quadro clínico compatível com a síndrome, apresentando quadro de olho seco. Devido ao fato das manifestações oculares ocorrerem precocemente, sendo o oftalmologista um dos primeiros profissionais a ser procurado, o mesmo deve ter conhecimento da síndrome, a fim de diagnosticar e acompanhar adequadamente o indivíduo acometido.

Levy-Hollister or lacrimo-auriculo-dento-digital (LADD) syndrome is a rare entity with autossomic dominant inheritance occuring as an isolated form or affecting many family generations. Diagnosis is based on the identification of the lacrimal drainage system abnormalities with reduction or absence of tear production and bone, teeth, salivar glands and outer ear abnormalities. A 13 year-old male patient has been followed at the Hospital Servidor Público Estadual in São Paulo due to dry eye since his first year of life. Due to the occurrence of early ocular manifestations in patients with Levy-Hollister or lacrimo-auriculo-dento-digital syndrome, ophthalmologists must be aware to recognize and control this syndrome.

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.

Anomalías congénitas de la mano: análisis exploratorio de los datos / Congenital anomalies of the hand: exploratory analysis of data / Anomalies congénitales de la main: analyse exploratrice des données

Se realizó un estudio retroprospectivo de 86 pacientes ingresados en el Complejo Científico Ortopédico Internacional "Frank País" entre enero de 1990 y diciembre de 1994, por presentar anomalías congénitas de la mano. De estos pacientes, 47 (54,65 %) pertenecían al sexo masculino y 39 al femenino; 29 pacientes presentaban anomalías bilaterales, por lo que el cómputo total de manos ascendió a 115. El 83,72 % de los pacientes se trataron antes de los 3 años de edad. La anomalía más frecuente fue la sindactilia (48,83 %). Fue necesario un promedio de 3 intervenciones quirúrgicas para lograr una mano funcional. Ciudad de La Habana aportó el 46,51 % del total de afectados.

A retrospective study of 86 patients admitted at the "Frank País" International Scientific Orthopedic Center from January, 1990, to December, 1994, for having congenital hand anomalies was conducted. 47 (54.65 %) of these patients were males and 39 females. 29 patients had bilateral deformities, which rose the total number of hands to 115. 83.72 % of the patients were treated when they were under 3. The most frequent anomaly was syndactyly (48.83 %). An averaje of 3 surgical procedures was necessary to achieve a functional hand. 46.51 % of the total of affected individuals were from Havana City.

Une étude retrospective de 86 patients admis dans le Complexe scientifique orthopédique international "Frank País" a été réalisée entre janvier 1990 et décembre 1994, du fait des anomalies congénitales de la main. De ces patients, 47 (54,65 %) étaient du sexe masculin, et 39 du sexe féminin; 29 patients étaient atteints d´anomalies bilatérales, pour autant le nombre total de mains a aumenté a 115. 83,72 % des patients ont été traités avant l´âge de 3 ans. L´anomalie la plus fréquente fut la syndactylie (48,83 %). Il a fallu 3 opérations chirurgicales en moyenne pour atteindre une main fonctionale. La Havane en a eu 46,51 % du total d´atteints.