The clinical spectrum of the Fraser syndrome: report of three new cases and review.
Open Access
- 1 September 1987
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (9) , 549-555
- https://doi.org/10.1136/jmg.24.9.549
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.This publication has 26 references indexed in Scilit:
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