Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome

Abstract

Introduction.- Cri-du-chat syndrome (cat’s cry syndrome) is a chromosomal disorder characterised by severe intellectual and psychomotor development delay and is commonly associated with total or partial deletion of the end of the short (p) arm of chromosome 5. Objective.- To get a deeper insight into the difficulties individuals with Cri-du-chat syndrome experience by means of the analysis of the most common features and oral pathology observed in the subjects enrolled in the study. Material and methods.- We have studied the intraoral and extraoral features of a total of 33 patients with Cri-du-chat syndrome (the larger sample so far analysed) through their clinical and photographic examination. Models, orthopantomographies and teleradiographies have been collected to establish a pattern as accurate as possible of the oral pathology associated with these patients. Results.- The present descriptive study shows that patients with Cri-du-chat syndrome present with a series of orofacial features such as maxillary micro-retrognathism, high palate and variable malocclusion, more commonly anterior open-bite. Most patients also present with perioral muscle relaxation with incompetent lip sealing and short philtrum. As regards oral pathology, these patients suffer from excessive dribbling, halithosis, dental erosions provoked by gastroesophageal reflux and attritions due to intense day and night bruxism. Patients with Cri-du-chat syndrome show dental alterations involving structure, size, position and number of teeth. Oral hygiene is usually poor and as regards the social and behavioural features of these subjects, they are usually sociable, effusive and cheerful. Discussion and conclusions.- The inadequate knowledge of the buccodental problems affecting these patients poses an obstacle to their proper access to oral health. The odontologists’ familiarity with the orofacial pathology associated with Cri-du-chat syndrome and with the specific needs such disorder conveys should improve the quality of the buccodental treatment these professionals may offer to these patients.