Santana HEE, Tamayo CVJ, Bruzón HM

Language: Spanish
References: 7
Page: 650-654
PDF size: 161.91 Kb.

ABSTRACT

5p-syndrome, better known as Cat Cry syndrome, is a rare congenital disease caused by a chromosomal abnormality. Its prevalence is approximately 1 in 20 000-50 000 births. The case of a five-year-old female patient with phenotypic features suggestive of this condition is presented. Cytogenetic diagnosis of chromosomal abnormality, karyotype 46, XY del(5)(p19.1), was established. This case is presented in order to show the need for a multidisciplinary intervention to address not only the organic aspects, but also the educational and social. It is concluded that early diagnosis of this entity is crucial for stimulation, rehabilitation and physiotherapy at an early age and for providing adequate genetic counseling to the family.

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