Abstract

SANTANA HERNANDEZ, Elayne Esther. Russell-Silver syndrome. Presentation of a case. Rev.Med.Electrón. [online]. 2018, vol.40, n.3, pp.784-789. ISSN 1684-1824.

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.

Keywords : Russel-Silver syndrome; hemihypertrophy; body asymmetry; intrauterine growth retardation; stunted growth with triangular facies and asymmetry.

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