Ellis-Van Creveld Syndrome, neonatal teeth and breastfeeding impairment: a case report / Síndrome de Ellis-Van Creveld, dentes neonatais e dificuldade de aleitamento materno: um relato de caso

ABSTRACT Because of multisystemic impairment in patients with Ellis-van Creveld syndrome, multidisciplinary care may be demanded since birth to assure breastfeeding. This report presents a case of an Ellis-van Creveld infant that was facing breastfeeding difficulties because of maxillary neonatal teeth. A 3 months old male infant with Ellis-van Creveld syndrome was referred to Pediatric Dentistry Department because of two upper neonatal teeth causing breastfeeding difficulties. Clinical examination revealed that teeth position was compatible to 51 and 61, and both presented uncommon ectopic soft tissue placement, conical crown and hypoplastic enamel covered by a large amount of dental biofilm. Radiography indicated they were of normal series and had 2/3 of crown completion. Due to teeth mobility that impaired breastfeeding, treatment option was exodontia. Early tooth eruption, such as in natal and neonatal teeth, by itself can't be considered a reason for exodontia. But exodontia must be considered when an early erupted tooth(s) impairs breastfeeding, especially in systemically compromised infants. In this present case report, after teeth extraction, the infant was able to breastfeed and gain weight properly.

RESUMO Devido ao comprometimento multissistêmico em pacientes com Síndrome de Ellis-Van Creveld, cuidados multidisciplinares podem ser necessários desde o nascimento a fim de assegurar o aleitamento materno. O presente relato apresenta um caso de um bebê portador de Síndrome de Ellis-Van Creveld, o qual apresentava dificuldades durante a amamentação devido a dentes neonatais superiores. Um bebê de 3 meses de vida, portador da Síndrome de Ellis-Van Creveld foi encaminhado ao Departamento de Odontopediatria, por apresentar dois dentes neonatais superiores, os quais estavam causando dificuldades durante o aleitamento materno. O exame clínico demonstrou que a posição dos dentes era compatível com os dentes decíduos #51 e #61, ambos apresentavam implantação ectópica incomum em tecido mole, apresentavam coroa cônica e esmalte hipoplásico coberto por grande quantidade de biofilme dentário. O exame radiográfico indicou que os dentes eram compatíveis com a série normal e apresentavam desenvolvimento completo de 2/3 da coroa. Devido a mobilidade dentária, a qual prejudicava o aleitamento materno, a opção de tratamento foi a exodontia. A erupção dentária precoce, como ocorre com dentes natais ou neonatais, por si só não pode ser considerada motivo para a realização de exodontia, porém esta deve ser considerada, quando prejudica o aleitamento materno, especialmente em bebês sistemicamente comprometidos. No presente relato de caso, após a exodontia, o bebê conseguiu realizar o aleitamento materno e apresentou ganho de peso correto.

Síndrome de Ellis Van Creveld / Ellis Van Creveld syndrome

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.

Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Síndrome de Ellis-van Creveld. Reporte de un caso en Ecuador / Ellis-van Creveld Syndrome. A case report in Ecuador / Síndrome de Ellis-Van Creveld. Relato de um caso no Equador

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.

Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia / Clinical community genetics: exploring genetic disorders in Boyacá, Colombia

RESUMEN Objetivo Explorar la presencia de patología genética sindrómica en el Departamento de Boyacá, mediante un acercamiento de medicina genética comunitaria. Materiales y Métodos Un grupo conformado por genetistas, neurólogo pediátrico y genetista bioquímico, llevó a cabo jornadas clínicas en las cuales se evaluaron pacientes con sospecha de enfermedad genética. Se obtuvieron datos demográficos, epidemiológicos y clínicos y se realizó el cálculo de frecuencias de los mismos. En los centros de referencia visitados se realizaron actividades de capacitación al personal médico. Resultados Se encontraron dos agrupamientos genéticos: MPSIII y Síndrome de Ellis Van Creveld, con incidencias mayores a lo reportado en la literatura, además una alta frecuencia de patologías de herencia autosómica recesiva, así como sospecha de síndromes de microdeleción-microduplicación. Conclusiones Se deben establecer mecanismos no convencionales de atención médica para facilitar el acceso a las comunidades a un diagnóstico y tratamiento adecuados en genética. Se espera que el apoyo brindado a los pacientes, familias y personal asistencial de los hospitales a través de las jornadas clínicas y la capacitación, permitan alcanzar este objetivo y a la vez sea un punto de inicio de procesos de prevención primaria y secundaria.(AU)

ABSTRACT Objectives To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach. Materials and Methods A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data. Several training workshops for health personnel were done in each center visited. Results Two genetic clusters were found: mucopolysaccharidosis type III, and Ellis-Van Creveld Syndrome, both of them with higher incidences than those found in the literature. Also, a high frequency of autosomal recessive diseases was found, as well as microdeletion/microduplication syndromes. Conclusions Conventional mechanisms of medical attention must be established, in order to facilitate the access to an appropriate diagnosis and treatment. This work intended to provide support to patients, families and health care services personnel through the workshops and clinical campaigns, and to become a starting point to develop primary and secondary prevention processes.(AU)

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

Ellis van Creveld: reporte de caso / Ellis van Creveld: Case report

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidactilia. El pronóstico depende fundamentalmente de la severidad de la cardiopatía, al igual que del diagnóstico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnóstico clínico de Síndrome de EVC, cuya baja frecuencia dificulta el correcto diagnóstico en pediatría. Caso clínico: Recién nacido con facies dismórfica, extremidades con huesos largos cortos, acortamiento rizomélico, manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en el que se concluyó un diagnóstico clínico de EVC. La evolución fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatía. Conclusiones: El síndrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus características en la comunidad pediátrica, haciendo énfasis en que al afectar múltiples sistemas y órganos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patología individualizando cada paciente; además de consejería genética y reproductiva a las parejas, e información de las expectativas del desarrollo del niño.

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld / Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome

El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Síndrome de Ellis-van Creveld: achados sistêmicos e orais / Ellis-van Creveld syndrome: systemic and oral findings

Aims: To present a case of Ellis-van Creveld syndrome highlighting the systemic and oral manifestations and expandthe phenotypic spectrum of the disorder.Case description: A 4-year-old female, with an initial diagnosis of Ellis-van Creveld syndrome, was referred for dentaltreatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmentedand dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystrophic toenails.The oral manifestations were upper labial frenulum causing large vestibule and absence of diastema, labiogingivalfrenulum, enamel hypoplasia, conical teeth, claw-like cusp, oligodontia, microdontia and malocclusion.Conclusions: Ellis-van Creveld syndrome is one among several syndromes with oral manifestations that demandsthe participation of a multidisciplinary team to better patient assessing, treatment and monitoring. Dentists have theleading role in the control and treatment of the oral manifestations.

Objetivos: Apresentar um relato de caso da síndrome de Ellis-van Creveld, destacando as manifestações sistêmicas e orais e expandindo o espectro fenotípico da doença. Descrição do caso: Uma menina de 4 anos com diagnóstico inicial de síndrome de Ellis-van Creveld foi encaminhada para tratamento odontológico. A paciente apresentava hexadactilia das mãos, tórax encurtado e desproporcional aos membros, cabelo fino, pele hipopigmentada e seca, baixa estatura, espaçamento entre o primeiro e o segundo dedos do pé direito e unhas dos pés acentuadamente distróficas. As manifestações orais foram representadas por freio labial superior amplo causando ausência de vestíbulo e diastema, frênulos labiogengivais, hipoplasia do esmalte, dentes cônicos, cúspide em garra, oligodontia, microdontia e maloclusão. Conclusões: A síndrome de Ellis-van Creveld representa uma entre as diversas síndromes com manifestações orais que demandam a participação de uma equipe multidisciplinar para melhor avaliar, tratar e acompanhar os pacientes. O cirurgião dentista tem o principal papel no controle e tratamento das manifestações orais.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome / Diabetes tipo 1 em um paciente com a síndrome de Ellis-van Creveld

CONTEXT: Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT: The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of 145.5 cm (P3), weight of 49 kg (P3), head circumference of 54 cm (P2-50), high palate, absence of one of the lower lateral incisor teeth, narrow shoulders, narrowing of the upper thorax, scoliosis, rhizomelic shortening of the upper limbs, brachydactyly, postaxial polydactyly and clinodactyly of the second and third fingers. The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity), small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs. At that time, he was using neutral protamine Hagedorn (NPH) insulin, with poorly controlled DM. The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.

CONTEXTO: A síndrome de Ellis-van Creveld (EVC) é uma doença autossômica recessiva rara, caracterizada por baixa estatura desproporcionada, tórax estreito, polidactilia pós-axial, anormalidades em unhas e dentes e cardiopatia congênita. RELATO DO CASO: O paciente é um rapaz caucasiano de 22 anos, o terceiro filho de pais consanguíneos. Recebeu diagnóstico de diabetes melito (DM) insulino-dependente aos 16 anos, sendo que, cerca de um ano depois, foi submetido a cirurgia cardíaca de correção de defeito de septo atrioventricular parcial. Ao exame físico, aos 22 anos, ele apresentava estatura de 145,5 cm (P3), peso de 49 kg (P3), perímetro cefálico de 54 cm (P2-50), palato alto, ausência de um dos dentes incisivos inferiores laterais, ombros estreitos, estreitamento do tórax superior, escoliose, encurtamento rizomélico dos membros superiores, braquidactilia, polidactilia pós-axial e clinodactilia dos segundo e terceiro dedos. Nos membros inferiores, observava-se encurtamento rizomélico com importante geno valgo (deformidade dos joelhos-batidos), pés pequenos com polidactlia pós-axial, sindactilia entre segundo e terceiro dedos, e háluces valgos. Múltiplos nevos melanocíticos eram evidentes na face, tórax e membros. Neste momento ele está em uso de insulina NPH (neutral protamine Hagedorn), com um controle inadequado do DM. Seus achados clínicos levaram ao diagnóstico de síndrome de EVC. Apenas um caso desta síndrome foi descrito com DM até o momento, sendo que chama a atenção o fato de que os genes associados à síndrome se localizam próximo ao da síndrome de Wolfram, uma condição que cursa com diabetes de início precoce.

Ellis-van Creveld syndrome: oral manifestations and treatment / Síndrome Ellis-van Creveld: manifestações bucais e tratamento

The Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disease, with incidence of 1:244,000 for the general population. The exact prevalence is unknown, but believed to be a genetic chromosomal disorder and a higher incidence in women. EVC consist of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome many other organs can be compromised and other oral manifestations may be present. We report a case of a patient, 17 years old, female, presenting the typical features of EVC and the medical report confirming the condition. Attended at the Center for the Studies and Care of Special Patients of University Paulista - São Paulo, Brazil, seeking dental treatment, reported being dissatisfied with the aesthetic. We analyze the events and the patient's oral condition and its treatment recommended. This study was previously submitted and approved by the University Paulista Ethic Committee with the protocol nº 642/09.

A síndrome de Ellis-van Creveld (EVC) ou displasia condroectodérmica é uma rara doença autossômica recessiva, cuja incidência na população em geral é de 1:224.000. A prevalência exata é desconhecida, acredita-se ser uma desordem genética cromossômica e de maior incidência em mulheres. A EVC é dada pela presença tétrade característica: displasia condroectodérmica, polidactilia, defeitos cardíacos congênitos e unhas e dentes hipoplásicos. Além da tétrade, muitos outros órgãos podem ser comprometidos e outras manifestações bucais podem se fazer presentes. Relata-se um caso clínico de uma paciente, 17 anos, gênero feminino, apresentando as típicas características da EVC e confirmando com laudo médico a patologia. Compareceu ao Centro de Estudos e Atendimento a Pacientes Especiais da UNIP em busca de tratamento odontológico e relatou estar insatisfeita com a estética. Foram analisadas as manifestações e condições bucais da paciente e seu tratamento preconizado.

Ellis-van Creveld syndrome with facial hemiatrophy.

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

Oral abnormalities in the Ellis-van Creveld syndrome.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

Ellis-van creveld syndrome (chondroectodermal dysplasia): Case report and review of literature.

Ellis-van Creveld syndrome, a rare genetic skeletal dysphasia, with shortening of distal part of the extremities, polydactyly, fusion of the hamates and capitates bones of the wrist, dystrophy of the fingernails and cardiac malformation usually a septal defect and often single atrium. An autosomal recessive pattern of inheritance has been well established. We report here a none-month-old boy with disproportionate short stature, particularly acromelic dwarfism, polydactyly and syndactyly of hands and feet and natal teeth. Radiographic findings revealed the characteristic changes. The diagnosis of genetic skeletal dysphasia is made by clinical findings and confirmed by radiological examination. Genetic counseling and prenatal diagnosis are of utmost importance.

A case of Ellis-van Creveld syndrome

No abstract available.