Abstract
Fraser syndrome is a rare autosomal recessive disorder characterized by syndactyly,
renal abnormalities, genital malformation, and in some cases, cryptophthalmos. This
syndrome had been diagnosed in the second pregnancy of a 22-year-old woman at 22 weeks
of gestation based on prenatal scan, postnatal clinical examination, and autopsy findings.
The third pregnancy was uneventful. In the fourth pregnancy, features of Fraser syndrome
were evident in the first trimester 11–14 week aneuploidy scan. A review scan at 16
weeks of gestation confirmed the findings of Fraser syndrome. Early ultrasound diagnosis
of recurrence of this syndrome as early as 16 weeks of gestation is highlighted.
Keywords
Fraser syndrome - Cryptophthalmos syndrome - CHAOS - Renal agenesis - Consanguinity
