PMID: 9662850Jul 15, 1998

Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases

Anales españoles de pediatría
M L Martínez-FríasF Hernández Ramón


Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion for the diagnosis is at least the presence of 2 major and one minor characteristic, or one major and four minor characteristics. The etiology of the syndrome is autosomal recessive and siblings are frequently affected. We show the characteristics of the 7 cases of Fraser syndrome identified in the consecutive series of 1,405,374 liveborn infants and 9,042 stillborn children surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1997. The minimal estimated frequency of Fraser syndrome is 0.43 per 100,000 liveborn infants and 11.06 per 100,000 stillbirths. As has been shown in other case studies, we have observed a wide clinical expression of this syndrome. At present it is possible to prenatally detect some of the characteristics of Fraser syndrome through ultrasound examination of eyes, digits and kidneys. Four out of the 7 cases we...Continue Reading

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