Abstract |
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.
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Authors | G Pomili, G Venti Donti, L Alunni Carrozza, C Ardisia, F Servidio, R M Hofstra, G Gilardi, E Donti |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 20
Issue 12
Pg. 1012-4
(Dec 2000)
ISSN: 0197-3851 [Print] England |
PMID | 11113917
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2000 John Wiley & Sons, Ltd. |
Topics |
- Agenesis of Corpus Callosum
- Corpus Callosum
(diagnostic imaging)
- Female
- Genetic Linkage
- Humans
- Hydrocephalus
(diagnostic imaging)
- Male
- Pedigree
- Pregnancy
- Risk Factors
- Syndrome
- Ultrasonography, Prenatal
- X Chromosome
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