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26 "DDEB, bullous dermolysis of the newborn" and "RDEB, bullous dermolysis of the newborn" present with subepidermal blistering at birth or shortly thereafter, which tends to regress spontaneously in the first few months of life in an autosomal dominant manner and an autosomal recessive manner, respectively.
To date, pre-term births occur in 83% of live births (mean gestational age is ∼32 weeks or even less) and the newborn present high mortality (18%) and morbidity (growth retardation in 28 36% and malformations in 10% of cases) [ 24, 25, 27].
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Bronchial branching malformation like BB with or without stenosis is an important differential diagnosis in newborn presenting with respiratory distress.
Here, in a multidisciplinary approach, we report a de novo SCN5A mutation (F1473C) discovered in a newborn presenting with extreme QT prolongation and differential responses to the Na+ channel blockers flecainide and mexiletine.
Six fetuses and one newborn presented with symptomatic congenital cytomegaly.
Moreover, the newborn presented sepsis successfully treated with ampicillin and gentamicin.
Fourteen hours after birth the newborn presented with a severe abdominal distension and breast feeding was soon and permanently discontinued.
This newborn presented with several other congenital anomalies, i.e. imperforate anus, absent coccyx, horseshoes kidney and cardiovascular malformation.
We defined low Apgar scores at five minutes as a newborn presenting with an Apgar score of less than 7 at five minutes.
Neonatal tetanus was considered in any newborn presenting with trismus or spasms occurring on stimulation or spontaneously, with or without feeding difficulties.
Sepsis was also considered as the possible diagnosis in any newborn presenting with abnormal temperature (< 36.0°C or >37.5°C), multiple skin pustules, redness or pus discharge from the umbilicus, respiratory distress, convulsions and feeding problems.
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