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MASA syndrome: ultrasonographic evidence in a male fetus.

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.
AuthorsG Pomili, G Venti Donti, L Alunni Carrozza, C Ardisia, F Servidio, R M Hofstra, G Gilardi, E Donti
JournalPrenatal diagnosis (Prenat Diagn) Vol. 20 Issue 12 Pg. 1012-4 (Dec 2000) ISSN: 0197-3851 [Print] England
PMID11113917 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 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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