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Síndrome Rusell Silver. Presentación de caso / Russell-Silver syndrome. Presentation of a case
Santana Hernández, Elayne Esther.
  • Santana Hernández, Elayne Esther; Universidad de Ciencias Médicas de Holguín. Holguín. CU
Rev. medica electron ; 40(3): 784-789, may.-jun. 2018. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-961249
RESUMEN
RESUMEN El síndrome Russell Silver es una enfermedad genética de baja frecuencia, caracterizada por retardo del crecimiento prenatal y postnatal, dismorfias faciales y digitales, así como asimetría corporal. Se presenta una paciente femenina de dos años de edad, remitida a consulta de Genética Clínica, por retardo en el desarrollo pondoestatural psicomotor, dismorfias faciales y asimetría corporal. Se realizño el diagnóstico clínico de esta afección. Es importante establecer un diagnóstico precoz para la estimulación temprana, seguimiento multidisciplinario y se brindó un adecuado asesoramiento genético a los familiares (AU).
ABSTRACT
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 (AU).
Subject(s)

Full text: Available Index: LILACS (Americas) Main subject: Silver-Russell Syndrome / Genetic Diseases, Inborn Type of study: Screening study Limits: Child, preschool / Female / Humans Country/Region as subject: Caribbean / Cuba Language: Spanish Journal: Rev. medica electron Journal subject: Medicine Year: 2018 Type: Article Affiliation country: Cuba Institution/Affiliation country: Universidad de Ciencias Médicas de Holguín/CU

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Full text: Available Index: LILACS (Americas) Main subject: Silver-Russell Syndrome / Genetic Diseases, Inborn Type of study: Screening study Limits: Child, preschool / Female / Humans Country/Region as subject: Caribbean / Cuba Language: Spanish Journal: Rev. medica electron Journal subject: Medicine Year: 2018 Type: Article Affiliation country: Cuba Institution/Affiliation country: Universidad de Ciencias Médicas de Holguín/CU