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Received Nov 27, 2017; Accepted Apr 15, 2018
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1. Introduction
Cri du chat syndrome is a congenital genetic disorder resulting from the deletion of different sizes of the short arm of chromosome 5 (5p). It was first reported in 1963 by French doctor Jerome Lejeune who is renowned for his discovery of Down syndrome. One of the remarkable clinical symptoms of cri du chat is a characteristic cat-like cry. Affected children cry with a weak one-octave-higher minor key. Some cases reported an anomaly in a deformed larynx or tracheobronchomalacia. The crying sound barely changes through growth, but the frequency of the cry may decrease [1].
Clinical features vary considerably from patient to patient but childhood and distinct facial dysmorphism. Malocclusion, hyper- and hypotonia, and delayed motor development are also common as well as microcephaly. Affected children also present with hypertelorism, micrognathia, epicanthal folds, deformed low-set ears, palate problems x(high arch or very wide and flat in shape), hypotonia, abnormal palm lines, and intellectual disability. Birth weight is markedly low, the face is round, and the eyes are wide-set in these subjects. The prevalence is 1 in 15,000 to 50,000 births, and the rate is known to be higher in females than in males [2]. The age of the mother is not associated with the presence of the syndrome, but several studies reported that a history of radiation in prepregnancy, infection of influenza or mumps in early pregnancy, and medication used before or during the pregnancy may be the cause [3]. Many patients die during their early childhood. Most patients surviving to adulthood demonstrate an IQ level lower than 20. Typical characteristics include eating problems due to difficulty in swallowing and sucking from early childhood. Most children with the syndrome are born with a low weight at birth, showing poor growth. Their cognitive and linguistic abilities and development of motor nerves are significantly delayed. They demonstrate behavioural problems, including attention deficit hyperactivity disorder (ADHD), aggressiveness, and repetitive behaviour [4].
In the cri du chat syndrome, dysphagia is frequently observed in young children occurring since their neonatal...