[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.
Camera
G
G
Centa
A
A
Zucchinetti
P
P
Ferraiolo
G
G
Frarricciardi
M
M
Marino
R
R
Pendola
F
F
Borrone
C
C
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
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.