Craniorachischisis and heterotaxia with heart disease in twins: link or change nature?
Congenit Heart Dis
; 5(5): 450-3, 2010.
Article
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| MEDLINE
| ID: mdl-21087431
ABSTRACT
Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cardiopatías Congénitas
/
Defectos del Tubo Neural
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Congenit Heart Dis
Asunto de la revista:
CARDIOLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Italia