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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome de Russel-Silver es una entidad caracterizada por un retraso importante del crecimiento intrauterino&#44; y es el m&#225;s caracter&#237;stico de los nanismos intrauterinos&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Adem&#225;s de la baja talla y peso al nacimiento&#44; este s&#237;ndrome se caracteriza por una serie de hallazgos caracter&#237;sticos como macrocefalia relativa&#44; rasgos faciales caracter&#237;sticos&#44; asimetr&#237;a corporal y otra serie de malformaciones&#46; Los &#250;ltimos estudios realizados sobre posibles alteraciones cognitivas en estos ni&#241;os detectan que la mayor&#237;a de los pacientes requieren seguimiento y atenci&#243;n especial&#46; Los intentos por explicar la etiolog&#237;a de esta entidad han fracasado&#44; aunque los &#250;ltimos estudios apuntan hacia un origen gen&#233;tico&#44; sobre todo disom&#237;a uniparental del cromosoma 7&#44; si bien a&#250;n no existen datos definitivos&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Se presenta uno de los casos m&#225;s caracter&#237;sticos descritos de s&#237;ndrome de Russel-Silver&#44; en el que aparecen la gran mayor&#237;a de los hallazgos relacionados con este cuadro&#46; Un reci&#233;n nacido con retraso del crecimiento intrauterino&#44; con las alteraciones faciales descritas por Russel&#44; macrocefalia relativa&#44; asimetr&#237;a corporal y una curva de ganancia ponderal pobre&#46;</p>"
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        "resumen" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Russel-Silver syndrome is characterized by severe intrauterine growth retardation and is the most characteristic intrauterine dwarfism syndrome&#46; In addition to short stature&#44; low birth weight and reduced postnatal growth&#44; this syndrome is characterized by features such a relative macrocephaly&#44; a typical craniofacial appearance&#44; asymmetry of the body and other abnormalities&#46; Recent studies on developmental delay in these children have shown that most require special education&#46; Attempts to explain the mechanism underlying this condition have been unsuccessful&#46; Recent studies suggest a genetic cause&#44; mainly uniparental disomy 7&#44; although definitive data are lacking&#46; We report a characteristic case of Russel-Silver syndrome&#58; a newborn with fetal growth retardation&#44; the craniofacial features described by Russel&#44; relative macrocephaly&#44; asymmetry of the body and very low weight increase&#46;</p>"
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Vol. 54. Núm. 6.
Páginas 588-590 (junio 2001)
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Vol. 54. Núm. 6.
Páginas 588-590 (junio 2001)
Acceso a texto completo
Enanismo intrauterino y rasgos dismórficos: un caso de síndrome de Russel-Silver
Intrauterine dwarfism and dysmorfic features. a case of russel-silver syndrome
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21328
A. Peinado Garrido
Autor para correspondencia
amunoz@goliat.ugr.es

Correspondencia: Servicio de Pediatría. Hospital Clínico San Cecilio. Granada. Doctor Olóriz, s/n. 18012 Granada.
, C. Borja Pérez, E. Narbona López, F. Contreras Chova, A. Jerez Calero, M.J. Miras Baldó
Servicio de Pediatría. Hospital Clínico San Cecilio. Granada.
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Estadísticas

El síndrome de Russel-Silver es una entidad caracterizada por un retraso importante del crecimiento intrauterino, y es el más característico de los nanismos intrauterinos.

Además de la baja talla y peso al nacimiento, este síndrome se caracteriza por una serie de hallazgos característicos como macrocefalia relativa, rasgos faciales característicos, asimetría corporal y otra serie de malformaciones. Los últimos estudios realizados sobre posibles alteraciones cognitivas en estos niños detectan que la mayoría de los pacientes requieren seguimiento y atención especial. Los intentos por explicar la etiología de esta entidad han fracasado, aunque los últimos estudios apuntan hacia un origen genético, sobre todo disomía uniparental del cromosoma 7, si bien aún no existen datos definitivos.

Se presenta uno de los casos más característicos descritos de síndrome de Russel-Silver, en el que aparecen la gran mayoría de los hallazgos relacionados con este cuadro. Un recién nacido con retraso del crecimiento intrauterino, con las alteraciones faciales descritas por Russel, macrocefalia relativa, asimetría corporal y una curva de ganancia ponderal pobre.

Palabras clave:
Síndrome de Russel-Silver
Disomía uniparental del cromosoma 7
Retraso del crecimiento fetal
Nanismo intrauterino
Recién nacido

Russel-Silver syndrome is characterized by severe intrauterine growth retardation and is the most characteristic intrauterine dwarfism syndrome. In addition to short stature, low birth weight and reduced postnatal growth, this syndrome is characterized by features such a relative macrocephaly, a typical craniofacial appearance, asymmetry of the body and other abnormalities. Recent studies on developmental delay in these children have shown that most require special education. Attempts to explain the mechanism underlying this condition have been unsuccessful. Recent studies suggest a genetic cause, mainly uniparental disomy 7, although definitive data are lacking. We report a characteristic case of Russel-Silver syndrome: a newborn with fetal growth retardation, the craniofacial features described by Russel, relative macrocephaly, asymmetry of the body and very low weight increase.

Key words:
Russel-Silver syndrome
Fetal growth retardation
Uniparental chromosome 7 disomy
Dwarfism
Newborn
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Bibliografía
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Cognitive abilities associated with the Silver-Russell Syndrome.
Arch Dis Child, 71 (1994), pp. 490-496
Copyright © 2001. Asociación Española de Pediatría
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