18q- syndrome. Case report

Authors

Keywords:

18q- deletion syndrome, partial deletion 18q, 18q monosomy, DeGrouchy syndrome, features, neurodevelopmental stimulation

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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Author Biographies

Yurkina Morales Femenia, Hospital Universitario "Dr. Antonio Luaces Iraola"

Especialista en II Grado en Logopedia y Foniatría. Máster en Educación Especial. Doctora en Ciencias Médicas. Profesora Titular en la Universidad de Ciencias Médicas de Ciego de Ávila.

Grisel María Alonso Gutiérrez, Hospital Universitario "Dr. Antonio Luaces Iraola"

Especialista en II Grado en Pediatría. Máster en Atención Integral al Niño. Doctora en Ciencias Médicas. Profesora Titular en la Universidad de Ciencias Médicas de Ciego de Ávila.

Carlos Ángel Santos González-Elías, Hospital Universitario "Dr. Antonio Luaces Iraola"

Especialista en I Grado en Pediatría. Profesor Auxiliar en la Universidad de Ciencias Médicas de Ciego de Ávila.

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Published

2020-01-31

How to Cite

1.
Morales Femenia Y, Alonso Gutiérrez GM, Santos González-Elías C Ángel. 18q- syndrome. Case report. Acta Méd Centro [Internet]. 2020 Jan. 31 [cited 2025 Jul. 2];14(2):237-42. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1095

Issue

Vol. 14 No. 2 (2020): April-June

Section

Case Reports

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