MASA syndrome: ultrasonographic evidence in a male fetus.
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic signs of the MASA spectrum such as hydrocephalus and hypoplasia of corpus callosum. Indeed, the evidence of an X-linked neurological disease in the brother and the maternal uncle of the pregnant women enabled us to estimate a 25% risk of a male fetus being an affected hemizygote. The way in which a prenatal diagnosis, based on instrumental procedures, was reached is described since the authors were unable to perform, at the time of the observation, a molecular confirmation which was carried out only after birth.
Pomili
G
G
Division of Obstetrics and Gynecology, University Hospital, Perugia, Italy.
Venti Donti
G
G
Alunni Carrozza
L
L
Ardisia
C
C
Servidio
F
F
Hofstra
R M
RM
Gilardi
G
G
Donti
E
E
D061085:Agenesis of Corpus Callosum; D003337:Corpus Callosum / Q000000981:diagnostic imaging*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012307:Risk Factors; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014960:X Chromosome