[Early neonatal manifestations of group B Streptococcus infection: case series and preventive strategy]. / Manifestazioni neonatali precoci da GBS: casistica e strategie preventive.

Group B Streptococcus (GBS) is, so far, one of the most important causes of neonatal morbidity and mortality. In order to elucidate the extent of this problem a screening for GBS has been performed on a group of pregnant women and their neonates. Maternal vaginal and rectal swabs were obtained on admission to the labor area. In these infants throat swabs at birth and throat and rectal swabs on day 4th and 6th were obtained. In the 14,248 pairs mother/infant examined, the rate of colonization was, respectively, 9 (7%) and 4 (1%). 6 among 569 colonized newborn show evidence of the early onset type infection (respiratory form: 2 cases; meningitic form: 4 cases). Fatal outcome and severe neurologic impairment were observed respectively in 3 and 1 patient. Risk factors (prematurity) were present only in two patients. In all cases clinic evidence was observed before that laboratory findings were disposable. The Authors remark the importance of the bacteriological screening in pregnancy, and of antibiotic therapy intrapartum in women with risk factors and in colonized newborn in the first hour of life when acute phase reactants are positive.

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival]. / Diagnosi prenatale di "Hydrolethalus" (sindrome di Salonen-Herva-Norio) in donna a rischio sconosciuto: presentazione di un caso con sopravvivenza prolungata.

A female infant with hydrolethalus (Salonen-Herva-Norio) syndrome, an autosomal recessive disorder, is reported. This condition was suspected at 26 weeks of gestation by fetal ultrasonographic examination. The pregnancy was complicated by polyhydramnios. The newborn showed hydrocephalus, occipital encephalocele, micrognathia, interventricular defect, hallucal duplication. The patient died at age 5 months and 11 days.

[Osteopetrosis: description of 2 cases, non-familial, of the fatal infantile form and of a case of the mild adult form. Impossibility of performing early prenatal diagnosis]. / Osteopetrosi: descrizione di due casi, non famigliari, della forma infantile letale e di un caso della forma media dell'adulto. Impossibilità di effettuare diagnosi prenatale precoce.

Two non familial cases of the juvenile lethal form of osteopetrosis and one case of the mild adult type are reported. In one case at risk of lethal osteopetrosis an early prenatal diagnosis was attempted, after informing the parents about the extreme difficulty to obtain conclusive results by such investigation. Although several ultrasonographic and one radiological examinations showed an apparently normal foetus, the newborn was affected by the lethal form of osteopetrosis.