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Biomedical subjects

A Centa

Publications and source records attributed to A Centa.

At least 37 records · Page 2Linked to original sources
PubMedDate not supplied

[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival].

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.

Abnormalities, Multiple↗
PubMedDate not supplied

[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].

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.

Child↗