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Keywords:

  • fra(X) syndrome;
  • dysmorphology;
  • hypothalamic dysfunction;
  • mental retardation

In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.