Lujan-Fryns syndrome

Related people

A syndrome marked by marfanoid habitus associated with mental retardation.

Description

A familial syndrome marked by marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia) associated with mental retardation. Inheritance is X-linked. It is predominantly affecting men.

We thank Joseph Constantin, France, for information submitted.

Bibliography

  • J. E. Lujan, M. E. Carlin, H. A. Lubs:
    A form of X-linked mental retardation with marfanoid habitus.
    American Journal of Medical Genetics, 1984, 17: 311-322.
  • J. P. Fryns, M. Buttiens:
    X-linked mental retardation with marfanoid habitus.
    American Journal of Medical Genetics, 1987, 28:267-274.
  • J. P. Fryns:
    X-linked mental retardation with marfanoid habitus. (Letter).
    American Journal of Medical Genetics, 1991, 38: 233.
  • J. P. Fryns, H. Van den Berghe:
    X-linked mental retardation with marfanoid habitus: a changing phenotype with age?
    Genetic Counseling, Geneva, 1991, 2: 241-244.
  • M. De Hert, D. Steemans, P. Theys, J. P. Fryns, J. Peuskens:
    Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.
    American Journal of Medical Genetics, 1996, 67: 212-214.
  • Griet van Buggenhout, Jean-Pierre Fryns:
    Lujan-Fryns syndrome (Mental retardation, X-linked, marfanoid habitus).
    Orphanet Journal of Rare Diseases, July 10, 2006, 1: 26.

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