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The clinical spectrum of the Fraser syndrome: report of three new cases and review Gattuso J; Patton MA; Baraitser MJ Med Genet 1987[Sep]; 24 (9): 549-55Three 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.|*Eye Abnormalities[MESH]|Abnormalities, Multiple/diagnosis/*genetics[MESH]|Ear/abnormalities[MESH]|Facial Bones/abnormalities[MESH]|Female[MESH]|Fingers/abnormalities[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Male[MESH]|Skull/abnormalities[MESH]|Syndrome[MESH]|Urogenital Abnormalities[MESH] |
