55 research outputs found
Chorioretinal coloboma and Joubert syndrome. Replyto the Editor.
The table presented by Lindhout a n d Barthis obtained from an incomplete updating of the literature; recently eight more families with one or more a ffected members we re published. In addition , the denominator to be used to study the: clinical features is the number of patients in whom the findings reported, whereas for the analysis of the parental consanguinity and of the sibs affected the number of the families studied has to be considered
Percutaneous ethyl alcohol intoxication in a one-month-old infant
A one-month-old child was referred to our hospital for unexplained lethargy. She was found to be intoxicated from ethanol-soaked gauze pads which had been applied to the umbilical stump and contiguous skin for several days for the purpose of promoting umbilical cord detachment. We emphasize the importance of considering the risk of percutaneous alcohol absorption, especially in young infants, and the necessity of toxicology screening in every child with drowsiness of unknown etiology
Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?
I.F.: 1.029
CLINICAL NEUROLOGY, PEDIATRICS, SURGER
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