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Arias' syndrome (Sergio Arias Cazorla)

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A hereditary syndrome, marked by impairment of hearing, hypoplasia of the radius, external ophthalmoplegia, thrombocytopenia, and leukocytosis.

Description

A hereditary syndrome, marked by impairment of hearing, hypoplasia of the radius, external ophthalmoplegia, thrombocytopenia, and leukocytosis. Mild incomplete right bundle branch block and imperforate anus may occur. There is an early delayed growth in the forearms, clavicles, and skull and permanent growth retardation of the spine. Dermatoglyphic abnormalities are present. Hand anomalies consist of hypoplasia of the thumb or its distal placement, occasional triphalangeal thumbs, hypoplasia of the thenar muscles, some instances of polydactyly and hypoplasia of the carpal bones, and fusion of hypoplastic carpal bones. Inheritance is autosomal dominant.

The disturbance was first observed in one family in Venezuela and 2 European families. S. Arias and associates in 1980 described a large family with 19 living affected members and named the syndrome for the institution at which they worked: Instituto Venezolano de Investigaciones Cientificas.

Bibliography

  • S. Arias, V. B. Penchaszadeh, J. Pinto-Cisternas, S. Laurrauri:
    The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, internal ophthalmoplegia, and thrombocytopenia.
    American Journal of Medical Genetics, New York, 1980, 6: 25-29.

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