RESUMO
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio's syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.
Assuntos
Criança , Diagnóstico Diferencial , Síndrome de Ellis-Van Creveld/complicações , Feminino , Humanos , Lactente , Masculino , Anormalidades da Boca/etiologia , Anormalidades Dentárias/etiologiaRESUMO
Moebius syndrome is an extremely rare disorder characterized by a lifetime facial paralysis, involving sixth and seventh cranial nerves with malformations of orofacial structures and the limbs. In this case, an 8 year old girl with Moebius syndrome is presented, clinical findings are described and management aspects are discussed. Early dental evaluation and parental counselling as a part of preventive dental regimen can go a long way in providing complete psychosocial rehabilitation for such physically disabled children.
Assuntos
Criança , Consanguinidade , Cárie Dentária/terapia , Disartria/etiologia , Paralisia Facial/congênito , Feminino , Humanos , Síndrome de Möbius/complicações , Anormalidades da Boca/etiologia , Respiração Bucal/etiologiaRESUMO
La epiloia es una enfermedad de origen genético autosómico dominante, con alteración en los cromosomas 9 y 16. El cuadro clínico es característico y los estudios paraclínicos permiten emitir con precisión el diagnóstico. En este estudio fue examinado un paciente de 27 años de edad con este trastorno. Mostró cuadros de epilepsia, retardo mental, calcificaciones intracraneales, angiofibromas faciales y defectos en la estructura dentaria, tales como fosas en el esmalte , además de crecimiento gingival inflamatorio y fibromas múltiples en la mucosa. El diagnóstico fue confirmado mediante interconsulta con los servicios de neurología, dermatología, odontología y genética