The clinical spectrum of the Fraser syndrome: report of three new cases and review.
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014564:Urogenital Abnormalities