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Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Shoko IkedaChika AkamatsuAkifumi IjuinAmi NagashimaMegumi SasakiAkihiko MochizukiHiromi NagaseYumi EnomotoYukiko KurodaKenji KurosawaHiroshi Ishikawa
Published in: Human genome variation (2020)
Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.
Keyphrases
  • magnetic resonance imaging
  • case report
  • copy number
  • contrast enhanced
  • early onset
  • computed tomography
  • magnetic resonance
  • single cell
  • autism spectrum disorder
  • genome wide