Retraso del crecimiento intrauterino de causa genética: síndrome de Wolf-Hirschhorn / Intrauterine growth retardation of genetic cause: Wolf-Hirschhorn syndrome
Prog. obstet. ginecol. (Ed. impr.)
; 60(1): 75-78, ene.-feb. 2017. ilus
Article
in Spanish
| IBECS
| ID: ibc-164039
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
El síndrome de Wolf-Hirschhorn es una enfermedad genética rara provocada por la pérdida de material genético en el brazo corto del cromosoma 4. Los individuos afectos presentan un fenotipo característico con apariencia de 'casco de guerrero griego', retraso en el desarrollo y epilepsia. El pronóstico es desfavorable lo que condiciona la importancia de su detección prenatal. Presentamos un caso de síndrome de Wolf-Hirschhorn diagnosticado postnatalmente que en el período prenatal únicamente mostraba un retraso del crecimiento intrauterino severo y polihidramnios. El estudio genético, solicitado de manera urgente a las 33 semanas, señaló un cariotipo 46 XX normal. Destacamos la importancia del estudio genético molecular durante el período prenatal en los casos de retraso del crecimiento intrauterino severo, en los que se sospeche una cromosomopatía, de cara a confirmar el diagnóstico, establecer el pronóstico y realizar consejo genético a los progenitores (AU)
ABSTRACT
The Wolf-Hirschhorn syndrome is a rare genetic disease caused by the loss of genetic material in the short arm of chromosome 4. The affected individuals have a characteristic 'Greek warrior helmet'-like phenotype, a delay in the development and epilepsy. The prognosis is poor, which determines the importance of prenatal screening. We present a case of postnatally diagnosed Wolf-Hirschhorn syndrome, which during the prenatal period just showed a severe intrauterine growth restriction and polyhydramnios. The requested genetic study, performed urgently at 33 weeks, seemed to show a normal 46, XX karyotype. We stress the importance of the molecular genetic study during the prenatal period in severe intrauterine growth restriction cases where the existence of a genetic disease is suspected, in order to confirm the diagnosis, establish the prognosis and provide parents with genetic counseling (AU)
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Prenatal Diagnosis
/
Wolf-Hirschhorn Syndrome
/
Fetal Growth Retardation
/
Amniocentesis
Type of study:
Diagnostic study
/
Etiology study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Spanish
Journal:
Prog. obstet. ginecol. (Ed. impr.)
Year:
2017
Document type:
Article
Institution/Affiliation country:
Hospital General Universitario Gregorio Marañón/España