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Beals-Hecht syndrome (Frederick Hecht)

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A heritable disorder of connective tissue affecting both sexes and present from birth, combining features of Marfan’s syndrome with arthrogryposis. It is mainly characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, kyphoscholiosis, and characteristic changes of the ear muscle producing crumpled ears. Inheritance is autosomal dominant.

Rodney K. Beals is also eponymously associated with Hecht-Beals syndrome, or trismus pseudocamptodactyly syndrome. This is a different entity from Beals-Hecht syndrome. See under Frederick Hecht, American paediatrician and medical geneticist, born 1930.

Bibliography

  • R. K. Beals, F. Hecht:
    Congenital contractural arachnodactyly. A heritable disorder of connective tissue.
    Journal of Bone and Joint Surgery, Boston, 1971, 53-A: 987-993. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.
    Pediatrics, Evanston, Illinois, 1972, 49: 574-579.
  • M.A. Ramos Arroyo, D.D. Weaver, R.K. Beals:
    Congenital contractural arachnodactyly: report of four additional families with review of literature.
    Clinical Genetics, Copenhagen, 1985, 27: 570-581.

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