Cri du chat case study

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Professional Reference articles are designed for health professionals to use. You may find the Cri du Chat Syndrome article more useful, or one of our other health articles. NICE has issued rapid update guidelines in relation to many of these. This guidance is changing frequently.

Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study

Grammatical constructions in Cri du chat syndrome--findings from a case study

Metrics details. The Cri du Chat syndrome CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 5p-. The incidence ranges from , to , live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation.

cri du chat

They are often previously diagnosed and under the care of other medical professionals. However, significant ocular, developmental, and visual-spatial concerns for which CdCs patients are pre-disposed must be identified and treated. The following case study presents a patient with CdCs, and further investigates the occurrence of the syndrome and methods of diagnosis, management, and prognosis of associated ocular sequelae. Case Report : A six-year-old female presented for an examination.
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion a missing piece of genetic material on the small arm the p arm of chromosome 5. The cause of this rare chromosomal deletion is unknown.

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