Diagnostic approach to child with dysmorphic features and developmental delay [Article in Croatian]

Abstract

Mental retardation/developmental delay is a common clinical problem. Due to the etiologic heterogeneity, the diagnostic evaluation is often complex and expensive. Until recently the underlying cause remained unknown in more than half of the patients. In recent years advances in molecular cytogenetics have shown that cryptic genome imbalances are a significant cause of developmental delay. In this review we present recommendations for the evaluation of children with mental retardation and dysmorphic features/congenital anomalies, including the most appropriate clinical and laboratory investigations, with special focus on new molecular karyotyping techniques and their role in clinical practice.