Fraser syndrome

Fraser syndrome is an extremely rare congenital syndromic anomaly.

Epidemiology

The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.

Clinical spectrum

The syndromic spectrum can comprise of:

Pathology

It carries an autosomal recessive inheritance with an abnormal gene locus at 4p21.

History and etymology

It is named after George R Fraser, a British human geneticist who first described the features of the syndrome in 1962.

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