RESUMO
We report on a new case of the Opitz "C" trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity.
Assuntos
Anormalidades Múltiplas/diagnóstico , Agenesia do Corpo Caloso , Craniossinostoses/diagnóstico , Tetralogia de Fallot/diagnóstico , Anormalidades Múltiplas/genética , Craniossinostoses/genética , Evolução Fatal , Feminino , Genes Recessivos , Humanos , Lactente , Síndrome , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/genética , Tomografia por Raios XRESUMO
Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarfism. The clinical delineation of this disorder has been inconsistent, using even Seckel's original criteria. As a result, probably fewer than one-third of reported cases are truly affected with SS. Among these, there have been only six familial cases, all of whom were born to normal parents, and in only one case has a detailed description of the central nervous system (CNS) anomalies been given. We describe a family in which three of eight children were affected with SS. CNS anomalies seen in our patients included agenesis of the corpus callosum, a dysgenetic cerebral cortex, a large dorsal cerebral cyst, and pachygyria, suggesting an underlying neuronal migration disorder. The parents are first cousins, representing only the second instance of consanguinity, supporting an autosomal recessive mode of inheritance.