UO di Pediatria, Azienda Ospedaliera Moscati, Avellino
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.
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