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.

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.

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.

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.