She had a soft, high-pitched, cat-like voice. The proband was a 62-year-old woman who presented to a psychiatric ward with temper tantrums, self-injuries, aggressive behavior, and psychotic symptoms, including delusions of persecution, auditory hallucinations, self-talking, and self-laughing. (2008) reported a 3-generation Chinese Han family in which 5 members had cri-du-chat syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression.įang et al. In some of them, the craniofacial appearance resembled that of Angelman syndrome ( 105830). Diagnosis was difficult to make in some of the patients who were first seen at an older age. All patients were severely or profoundly mentally retarded except for one who was mildly retarded. Some of the clinical characteristics, such as long face, macrostomia, and scoliosis, became more evident. They presented 7 patients with 5p deletion syndrome, with ages ranging from 16 to 47 years. (2000) pointed out that with advancing age the clinical picture of the cri-du-chat syndrome becomes less striking. They suggested that a cranial developmental field, originating from the notochordal location, is involved in the manifestations of cri-du-chat syndrome. They pointed out that this specific cranial base region develops around the notochord at the location from where the rhombencephalic-derived brainstem, pons, and cerebellum develop dorsally, and from where the neurons to the larynx migrate ventrally. Malformations in the bony contours of the sella turcica and the clivus occurred in cri-du-chat patients with terminal deletions. The cranial base angle was in most cases reduced and in no cases increased compared to age-related standards for normal individuals. Twenty-two patients had terminal deletions of chromosome 5, and 1 patient had an interstitial deletion. Kjaer and Niebuhr (1999) studied profile radiographs of the cranial face in 23 patients with cri-du-chat syndrome collected in Denmark in the 1970s. One of the most characteristic features in newborns is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome (see Overhauser et al., 1994) however, the characteristic cat-like cry without the typical dysmorphic and severe developmental features of the syndrome has been found in individuals with a deletion confined to 5p15.3 (see Overhauser et al., 1994 and Gersh et al., 1995). Hydrocephaly Ĭerebral atrophy Ĭerebellar atrophy Ĭri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe psychomotor and mental retardation.

Hypoplastic corpus callosum Īgenesis of corpus callosum

Cri du chat syndrome