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Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation

A distinct inherited syndrome

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Summary

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

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References

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Correspondence to J. M. Cantú.

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Cantú, J.M., Sánchez-Corona, J., García-Cruz, D. et al. Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. Hum Genet 56, 231–234 (1980). https://doi.org/10.1007/BF00295702

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Sexual Maturation
  • Sexual Development
  • Mental Deficiency