Achard's syndrome

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A heritable disorder of connective tissue, characterized mainly by brachycephaly, arachnodactyly, widespread dysostoses, receding lower jaw, and joint laxity of the hands and feet.

Description

A heritable disorder of connective tissue, characterized mainly by brachycephaly, arachnodactyly, widespread dysostoses, receding lower jaw, and joint laxity of the hands and feet. Despite similarities, the Achard and Marfan syndromes are different entities. The cases decribed by Achard in 1902 differed from Marfan's case of 1896 in that the skull was broad and brachycephalic with small mandible; although there was arachnodactyly, the body proportions were not altered and the patient was not exessively tall. The Achard syndrome also lacks eye and heart abnormalities, and subnormal subcutaneous fat content. The syndrome is transmitted as an autosomal dominant trait.

Bibliography

  • E. C. Achard:
    Arachnodactylie.
    Bulletin des Membres de la Société des Médecins des Hôpitaux de Paris, 1902, 19: 834-843. 23: 834-840.
  • H. Thursfield:
    Arachnodactyly.
    St. Bartholomew’s Hospital Reports, London, 1917-1918, 53: 35-40.
  • J. G. Parish:
    Heritable disorders of connective tissues with arachnodactyly.
    Proceedings of the Royal Society of Medicine, London, 1960, 53: 515-518.
  • P. A. Duncan:
    The Achard syndrome.
    Birth Defects Original Article Series, New York, 1975, 11 (6): 69-73.

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