Skip to main content
SpringerLink
Log in

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation

A distinct inherited syndrome

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Breg WR (1962) Genetics aspects of mental retardation. Quart Rev Pediatr 17:9–23

    Google Scholar 

  • Canto-Cetina T, Pérez-Palacios G, Tovar E (1973) Clinical evaluation of serum HTSH assay. Rev Invest Clin (Méx) 25:95 (Abstract)

    Google Scholar 

  • Farkas LG (1971) Basic morphological data of external genitals in 177 healthy central European men. Am J Physiol Anthropol 34:325–328

    Google Scholar 

  • Faulhaber J (1976) Crecimiento. In: Investigación longitudinal del crecimiento. Instituto Nacional de Antropología e Historia, México, pp 69–95

    Google Scholar 

  • Febres F, Scaglia H, Lisker R, Espinoza J, Morato T, Shkurovich M, Pérez-Palacios G (1975) Hypothalamic-pituitarygonadal function in patients with myotonic dystrophy. J Clin Endocrinol 41:770–777

    Google Scholar 

  • Kaplan JG, Moshang T, Bernstein R, Parks JS, Bongiovanni AM (1973) Constitutional delay of growth and development: effects of treatment with androgens. J Pediatr 82:38–44

    PubMed  Google Scholar 

  • Martínez-Campos A, Nieto L, Tovar E, Maisterrena J, García-Reyes JA, Valverde C (1978) Growth hormone response to oral TRH as a diagnostic aid in acromegaly. Rev Invest Clin (Méx) 30:127–130

    Google Scholar 

  • McKusick VA (1978) Mendelian inheritance in man. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Pérez-Palacios G, Iramain CA, Castañeda C, Rojo B, Long DW, Scaglia H, Gual C, (1973) Plasma profile of pituitary gonadotropins and ovarian steroids in the normal menstrual cycle. Rev Invest Clin (Méx) 25:305–313

    Google Scholar 

  • Turleau C, Czernichow P, Gorin R, Royer P, Grouchy J de (1979) Debilité mentale liée an sexe, visaje particulier, macroorchidée et zone de fragilité de l'X. Ann Genet (Paris) 22: 205–209

    Google Scholar 

  • Wright SW, Tarjan G, Eyer L (1959) Investigation of families with two or more mentally defective siblings: clinical observations. Am J Dis Child 97:445–456

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. División de Genética, Subjefatura de Investigación Científica, Unidad de Investigación Biomédica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico

    J. M. Cantú, J. Sánchez-Corona, D. García-Cruz & R. Fragoso

Authors
  1. J. M. Cantú
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. Sánchez-Corona
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D. García-Cruz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. Fragoso
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00295702

Keywords

Search

Navigation