Neurological findings of a series of patients with chromosome 18 trisomy (Edwards syndrome) in mosaic

Abstract

Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The average number of cells analyzed in these cases was 27,8. Three of the 5 patients (60%) were male. The age at evaluation ranged from 14 to 5926 days (median 93 days). The small number of clinical findings described was noteworthy, both in the dysmorphological evaluation and complementary exams. The main changes were micrognathia (n = 3), low ears implanted (n = 2), retroverted ears (n = 3), clenched fists with overlapping toes (n = 2) and clubfoot (n = 1). As for internal organs, congenital heart disease was reported in 2 cases (40%). All patients had a history of delayed neuropsychomotor development. The older patient also had a description of cognitive impairment and seizures. Conclusions: The clinical presentation of our patients is consistent with what is described in the literature, since they point out due to small number of changes. However, the delay in neuropsychomotor development and neurological symptoms are constant findings. Thus, pediatricians and neurologists should be aware of this possibility.