title: [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].
abstract: 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.
authors.forename: G
authors.initials: G
authors.lastname: Camera
authors.forename: A
authors.initials: A
authors.lastname: Centa
authors.forename: P
authors.initials: P
authors.lastname: Zucchinetti
authors.forename: G
authors.initials: G
authors.lastname: Ferraiolo
authors.forename: M
authors.initials: M
authors.lastname: Frarricciardi
authors.forename: R
authors.initials: R
authors.lastname: Marino
authors.forename: F
authors.initials: F
authors.lastname: Pendola
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D002648:Child; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D014463:Ultrasonography
vernacular_title: 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.