Fraser syndrome: recurrence in a family

Indian Pediatr. 2007 Dec;44(12):929-30.

Abstract

Fraser syndrome is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, genitourinary mal-formations and mental retardation. We report a family with affected child where the pregnant woman was referred at 24 weeks of gestation for termination of pregnancy. The aborted fetus showed typical findings suggestive of Fraser syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced*
  • Adult
  • Eyelids / abnormalities*
  • Family
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Pregnancy
  • Recurrence
  • Syndactyly / genetics*
  • Syndrome