Publication

De prognose van het cri-du-chat syndroom

Oosterwijk, J. C., Verboom, A. J. & Bijlsma, J. B., Dec-1987, In : Tijdschrift voor Kindergeneeskunde. 55, 6, p. 226-233 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cri-du-chat syndrome (5p-) is one of the most frequently occurring chromosomal deletion syndromes in man. Clinical findings have been described extensively in literature, but documentation of the patients' mental development has been poor. Recently the clinical heterogeneity and variance in psychomotor development was studied in a large series of patients. Review of the literature revealed that some 15% of the cases were found to be familial, there appears to be a slight correlation between karyotype and phenotype and the positive effects of early stimulation programs on the patients' prognosis is pointed out. Some 60% of the patients need regular medical care and nearly all are mentally retarded. However a wide spectrum of developmental abilities is displayed and a number of patients can be reared at home for several years. Life expectancy depends on the number and severity of birth defects.

Translated title of the contributionPrognosis in the cri-du-chat syndrome
Original languageDutch
Pages (from-to)226-233
Number of pages8
JournalTijdschrift voor Kindergeneeskunde
Volume55
Issue number6
Publication statusPublished - Dec-1987

    Keywords

  • Child Development, Chromosome Aberrations, Cri-du-Chat Syndrome, Female, Genetic Counseling, Humans, Infant, Infant, Newborn, Male, Prognosis

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