M Gorinati

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We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described(More)
We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.
A case of traumatic oesophageal pseudodiverticulum in a VLBW preterm infant is reported. Both clinical and radiological findings were suggestive for oesophageal atresia. A medical therapeutic approach, including the use of wide spectrum antibiotics and a regimen of total parenteral nutrition, was initially chosen for her highly premature status and bad(More)
Early-onset infection findings caused by Group B Streptococcus occur within 24 hours of birth (60 per cent of cases) but they may appear anytime during the first 5 days of life. In our experience early-onset infection affects both preterm and term neonates. The Authors report the usual clinical signs described for bacterial infections. Unusual findings are(More)
Periventricular leukomalacia (PVL) is defined as an ischemic lesion of the brain of the preterm infant, characterized by infarction of the deep white matter surrounding the external angle of the lateral ventricles, a watershed area lacking collateral circulation, representing a typical "border zone" of vascular supply. This lesion is considered the(More)
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