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Holt-Oram syndrome

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A rare syndrome combining upper limb abnormalities and congenital heart diseases. In complete syndrome there is congenital cardiovascular malformations – commonly an atrial septal defect – secundum atrial septal defect with bony abnormalities of the upper extremity, including polydactyly and syndactyly, resulting in short forearms and loss of opposition to the thumb or a thumb which looks finger-like.

Mary Holt was Samuel Oram's assistant when they, in 1960, described a familial condition in which atrial septal defects were associated with malformations of the thumb, forearm, bones and shoulder girdle in successive generations. In his account of the delineation of the syndrome Oram mentioned that as Holt was a lady, it seemed only proper to him that her name should appear as first author on their paper! The syndrome is transmitted as an autosomal dominant trait.


  • M. C. Holt, S. Oram:
    Familial heart disease with skeletal malformations.
    British Heart Journal, London, 1960, 22: 236-242.
  • L. C. Harris and W. P. Osborne:
    Congenital absence or hypoplasia of the radius with ventricular septal defect: Ventriculo-radial dysplasia.
    The Journal of Pediatrics, February 1966, 68 (2): 265-272.

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