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Acta Médica del Centro
versão On-line ISSN 2709-7927
Resumo
MORALES FEMENIA, Yurkina; ALONSO GUTIERREZ, Grisel María e SANTOS GONZALEZ-ELIAS, Carlos Angel. 18q- syndrome. Case report. Acta méd centro [online]. 2020, vol.14, n.2, pp. 237-242. Epub 30-Jun-2020. ISSN 2709-7927.
Introduction:
syndrome 18q- is considered a rare disease and is the second most common syndrome that involves chromosome 18. The objective of this report is to describe the characteristics and stimulation of neurodevelopment of a child with partial deletion of the long arm of chromosome 18 (18q-).
Case report:
a three-year-old male boy is presented, with a diagnosis of an 18q- disorder, which is being followed up by the Logophoniatry and Neuropediatrics Consultations of the Ciego de Ávila Province.
Conclusions:
the interesting thing about this case is that due to the great phenotypic variability it is very difficult for two children with the 18q syndrome to have exactly the same and not all the phenotypic characteristics of this syndrome; Every child with this syndrome is unique. Early diagnosis is essential and important to improve the quality of life and stimulate neurodevelopment of children with 18q- syndrome.
Palavras-chave : 18q- deletion syndrome; partial deletion 18q; 18q monosomy; De Grouchy syndrome; features; neurodevelopmental stimulation.