The epidemiology and genetics of microtia-anotia (M-A) were studied using data collected from the Italian Multicentre Birth Defects Registry (IPIMC) and that mothers with chronic maternal insulin dependent diabetes were at significantly higher risk for having a child with M-A. MMI with M-A had higher rates of prematurity, low birth weight, reduced intrauterine growth, and neonatal mortality than infants with isolated M-A and controls. Babies with isolated M-A had, on average, a lower birth weight than controls; the difference was higher for females. The analysis of pedigrees and familial cases suggests an autosomal dominant trait with variable expression and incomplete penetrance in a proportion of cases, or a multifactorial aetiology. Three cases had consanguineous parents, but the absence of M-A among previous sibs does not support autosomal recessive inheritance. (J Med Genet 1995;32:453-457) Microtia and anotia (M-A) are malformations of the auricle ranging from a measurably small external ear with minimal structural abnormality, to an ear with major structural alteration, to total absence of the ear.'
In VLBW neonates, a serum PCT value >2.4 ng/ml prompts early empirical antibiotic therapy, while in normal-birth-weight infants, a PCT value ≤2.4 ng/ml carries a low risk of missing an NS.
In very preterm/VLBW infants CHD are more prevalent than in the general liveborn population, and confer an increased risk of death and serious morbidities independently of other risk factors. These results may be useful to better tailor prognostic assessment and diagnostic and therapeutic interventions for these children.
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