Russell-Silver syndrome. Presentation of a case

Authors

  • Elayne Esther Santana Hernández Universidad de Ciencias Médicas de Holguín. Holguín.

Keywords:

Russel–Silver syndrome, hemihypertrophy, body asymmetry, intrauterine growth retardation, stunted growth with triangular facies and asymmetry.

Abstract

The Russell-Silver syndrome is a low-frequency genetic disease, characterized by a pre-natal growth retardation and postnatal digital and facial dysmorphia, and also body asymmetry. We present a female patient, aged 2 years, who was remitted to the consultation of Clinical Genetics because of a retardation in the psychomotor, height-weight development, facial dysmorphia and body asymmetry. The disease was clinically diagnosed. It is important to arrive to a precocious diagnosis for the early stimulation, multidisciplinary follow-up and adequate genetic advice to the relatives.

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Published

2018-05-02

How to Cite

1.
Santana Hernández EE. Russell-Silver syndrome. Presentation of a case. Rev Méd Electrón [Internet]. 2018 May 2 [cited 2025 Apr. 30];40(3):1-6. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/2064

Issue

Vol. 40 No. 3 (2018)

Section

Presentation of cases

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