منابع مشابه
Cri du chat syndrome.
Since the description of the first three cases of the 'cri du chat' syndrome by Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin (1963), 12 patients have been reported on in whom part of the short arms of a chromosome in the 4-5 group were absent (Lejeune, Lafourcade, de Grouchy, and Berger, 1964b; Punnett, Carpenter, and DiGeorge, 1964; Book, Atkins, and Santesson, 1963...
متن کاملCri du Chat syndrome
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 1:15,000 to 1:50,000 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 m...
متن کاملCri-du-chat syndrome
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
متن کاملCri du chat syndrome: a critical review.
A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, a high-pitched monochromatic cat-like crying, that usually disappears in the first years of life. CdCS is one o...
متن کاملGrowth study of cri du chat syndrome.
We compared the growth of children with cri du chat (5p-) syndrome with the 1990 UK growth curves. Most subjects had impaired growth, particularly of head circumference. The more emaciated the child the more pronounced the microcephaly, showing the need for growth and nutrition monitoring.
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ژورنال
عنوان ژورنال: 1895
سال: 2015
ISSN: 0769-0959,1960-6176
DOI: 10.4000/1895.4971