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Resumen
De transmisión autosómica, el síndrome de Meckelviene definido en su origen por una tríada malformativa que asocia encefalocele, displasia quística renal y polidactilia. De hecho, la extrema variabilidad de los casos clínicos publicados en la bibliografía pone de manifiesto que el polimorfismo de este síndrome constituye una característica esencial. La ecografía es, actualmente, el mejor medio de cribado prenatal de esta malformación letal. El cariotipo es indispensable para eliminar una trisomía 13 o 18. La frecuencia del gen del síndrome de Meckel en la población general es del orden de 1/400. Su aislamiento aportará una ayuda capital para el diagnóstico en razón de la multitud de síndromes polimalformativos que pueden evocarse ante el cuadro en el diagnóstico diferencial.
Summary
Meckel s syndrome is an autosomal recessive disorder classically defined by occipital encephalocele, mul-ticystic kidneys and polydactyly. However, the extreme variability of the case reports published in the medical literature demonstrates that this syndrome is characterised by a very wide phenotypic spectrum. Ultrasound examination is currently the best screening method for this lethal syndrome. The karyotype is indispensable to the differential diagnosis, especially with trisomy 13 or 18. The frequency of the Meckel s syndrome gene in the general population is 1/400. Because of its similarity with other syndromes presenting multiple malformations, isolation of the specific gene will be of use in the differential diagnosis of this syndrome.
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