A five month old girl with deletion in 5th chromosome: Cri du chat syndrome

Abstract

This five month-old girl was admitted to our clinic due to failure to thrive. On physical examination, her weight, length and head circumference was below the 3rd percentile, she had blond hair, facial dysmorphism and high arched palate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the help of high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made.