Cri-du-chat syndrome: a case report and literature review

Abstract

A neonatal girl with overextended knees admitted to NICU of our hospital was diagnosed as cri du chat (cat cry) syndrome. We collected 34 cases of cri du chat reported in journals since 2000, the clinical features of total 35 cases were retrospectively analyzed. Among 35 cases 12 were boys and 23 girls. The most common clinical manifestations were characteristic face features (100%), difficult feeding (100%) and typical sound of cry (94%). The main complains at hospital visit were typical cry, difficult feeding and cyanosis in the neonatal period, while in childhood period were recurrent respiratory infection, developmental retardation and other abnormalities. Most cases were diagnosed in the neonatal phase, while 85.3% were in the first year. The diagnosis was based on karyotype analysis; chromosome 5 short arm deletion (5P-) was the most significant genetic variation and clinical features were associated with the position of deletion. Key words: Cri-du-chat syndrome; Diagnosis