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J Med Genet 24:549-555 doi:10.1136/jmg.24.9.549
  • Research Article

The clinical spectrum of the Fraser syndrome: report of three new cases and review.

  1. J Gattuso,
  2. M A Patton,
  3. M Baraitser
  1. Department of Clinical Genetics, Institute of Child Health, London.

      Abstract

      Three new cases of the Fraser syndrome are presented and 68 published cases are reviewed. A quantitative estimate of the frequency of clinical manifestations is given. Craniofacial abnormalities were reported in all patients, cryptophthalmos in 93%, and syndactyly in 54%. Abnormalities of the ears, nose, genitalia, and urinary system were reported in 44%, 37%, 49%, and 37% of cases respectively. This variability should be taken into account when attempting prenatal diagnosis; a combination of ultrasound and fetoscopy should provide the best approach. Of the reported cases 26% were stillborn and 19% died in the first year of life. Renal and pulmonary malformations were associated with early death.