Assuntos
Cuidados Paliativos/métodos , Procedimentos Cirúrgicos Operatórios/métodos , Síndrome da Trissomía do Cromossomo 18 , Tomada de Decisão Clínica , Feminino , Humanos , Recém-Nascido , Masculino , Seleção de Pacientes , Prognóstico , Estudos Retrospectivos , Procedimentos Cirúrgicos Operatórios/estatística & dados numéricos , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/terapia , Reino UnidoRESUMO
Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously.
Assuntos
Síndrome de Ellis-Van Creveld/diagnóstico , Estatura , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Síndrome de Ellis-Van Creveld/complicações , Humanos , Subluxação do Cristalino/etiologia , MasculinoRESUMO
This case report describes an experience of using recombinant enzyme in a child who was diagnosed as a case of Gaucher disease at the age of 3 years. Regular enzyme replacement therapy has resulted in marked improvement in his hemoglobin level, absolute neutrophil count, platelets and physical growth.
