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ISSN 1995-9494 (Electronic)
Revista del Hospital Clínico Quirúrgico "Arnaldo Milián Castro"

2020, Number 2

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Acta Med Cent 2020; 14 (2)

Síndrome 18q-. Informe de caso

Morales FY, Alonso GGM, Santos González-Elías CA

Language: Spanish
References: 18
Page: 237-242
PDF size: 127.53 Kb.


ABSTRACT

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.


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