The constellation of features associated with this disorder includes low birth weight, microcephaly, round face, hypertelorism or telecanthus, downward-slanting palpebral fissures, epicanthi, and broad nasal bridge. Partial monosomy of 5p is seen in approximately 1 in 50,000 live births and is associated with a multiple congenital anomaly syndrome named for the unusual cry of the affected babies, described as similar to that of a cat, or cri du chat. Zackai, in Avery's Diseases of the Newborn (Tenth Edition), 2018 Cri du Chat Syndrome (5p–)
For example, infants with severe asphyxia or bacterial meningitis with the most abnormal cries had the poorest prognosis.Ĭhad R. However, cry characteristics may have diagnostic value even for infants already diagnosed with CNS damage. In most cases with these known medical conditions there are other clinical signs. As seen in Table 2, the most common changes in cry characteristics associated with severe medical conditions are higher f 0 and more variability in f 0. In addition to other trisomy conditions (trisomys 13, 18, and 21), other conditions related to acoustic cry characteristics include asphyxia, undefined brain damage, Down syndrome, hydrocephalus, hypothyroidism, Krabbe's disease, encephalitis, and bacterial meningitis. The genetic syndrome cri du chat (cry of the cat) is caused by deletion of the short arm of chromosome 5 and is virtually diagnosed by the distinctive high-pitched cry. Much of the early interest in infant crying was based on the use of cry acoustics in the diagnosis of medical syndromes or damage to the CNS listed in Table 2. Most patients with CdCS, however, do not have other major congenital malformations. Some individuals with CdCS also can present with retinal vessel abnormalities, opticatrophy, or congenital renal and heart defects. CdCS also is associated with variable intellectual disabilities and neuropsychiatric manifestations, including autistic behaviors. Specific craniofacial findings include round face, bilateral epicanthal folds, hypertelorism with a broad nasal bridge, down-slanting palpebral fissures, and short philtrum.
The hallmark features of CdCS include a high-pitched monotonous cry, low birth weight, microcephaly, hypotonia, poor growth, and developmental delay.
The cause of this rare chromosomal deletion is unknown. The incidence of CdCS ranges from approximately one in 15,000–50,000 in live-born infants, and about 1 in 350 among people with intellectual disabilities. It is a rare genetic condition caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5, and is among the most common deletion syndromes. Chang-Hui Shen, in Diagnostic Molecular Biology, 2019 Cri du chat SyndromeĬri du chat syndrome (CdCS) also is known as 5p-syndrome and cat cry syndrome.
0 kommentar(er)
