Sindrome di dubowitz con reflusso vescico-ureterale e agenesia renale. confronto con le sindromi da instabilità cromosomica

Description of a Dubowitz’ syndrome case (shortness of stature, microcephaly, superactivity, slight mental retardation, peculiar facies, thin hair, lid drop) associated with renal agenesis and vesicoureteral reflux. The case is compared to other genetic syndromes, especially with the Bloom’s syndrome and the Nijmegen’s syndrome. All of them are characterised, like the Louis-Bar’s syndrome and the Fanconi’s syndrome, by chromosome fragility.