Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Abstract

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.resUMo 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. Múl-tiplos 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 ...

Late survival in Ellis–van Creveld syndrome – A case report

“…10 Graziadio et al reported about a patient with EVC syndrome who was 22 years old and had Type-1 diabetes. 11 While cases of EVC syndrome have been reported from India, no case with survival into late adulthood has been reported so far.…”

A Case Report of Late Survival in Ellis: Van Creveld Syndrome

“…[10] Graziadio et al reported about a patient with EVC syndrome who was 22 years old and had Type-1 diabetes. [11] While cases of EVC syndrome have been reported from India, no case with survival into late adulthood has been reported so far. EVC needs to be distinguished from a number of closely related entities.…”

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld

“…1,2 El fenotipo es variable y afecta múltiples órga-nos. Sus características clínicas se describieron en numerosos informes [3][4][5][6] y series de casos. [7][8][9][10][11][12] Después del nacimiento, el cuadro clínico suele ser la tétrada conformada por: 1) estatura pequeña con acortamiento de la parte distal de los miembros y acortamiento de las falanges media y distal; 2) polidactilia en las manos (casi siempre bilateral), que ocasionalmente afecta los pies; 3) displasia condroectodérmica que afecta principalmente las uñas, el cabello y los dientes, y 4) malformaciones cardíacas congénitas (50% a 60% de los casos); las más frecuentes son defectos septales y aurícula única; también se han informado defectos de las válvulas mitral y tricúspide, persistencia del conducto arterioso y síndrome del corazón izquierdo hipoplásico.…”