Skip to main content

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

Abstract

Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal.

This is a preview of subscription content, access via your institution.

References

  1. 1.

    Carpenter, M. B., Druckemiller, W. H.: Agenesis of the corpus callosum diagnosed during life. Arch. Neurol. Psychiat. (Chic.) 69, 305–322 (1953)

    Google Scholar 

  2. 2.

    Carpenter, M. B.: Agenesis of the corpus callosum. A study of 18 cases diagnosed during life. Neurology (Minneap.) 4, 200–210 (1954)

    Google Scholar 

  3. 3.

    Echternacht, A. P., Campbell, J. A.: Mid-line anomalies of the brain: their diagnosis by pneumoencephalography. Radiology 46, 119–131 (1946)

    Google Scholar 

  4. 4.

    Kirschbaum, W. R.: Agenesis of the corpus callosum and associated malformations. J. Neuropath. exp. Neurol. 6, 78–94 (1947)

    Google Scholar 

  5. 5.

    Menkes, J. H., Philippart, M., Clark, D. B.: Hereditary partial agenesis of corpus callosum. Arch. Neurol. 11, 198–208 (1964)

    Google Scholar 

  6. 6.

    Mingazzini, G.: Der Balken: Eine anatomische, physiopathologische und klinische Studie. Monographien aus dem Gesamtgebiete der Neurologie und Psychiatrie, Vol. 28. Berlin: Springer 1922

    Google Scholar 

  7. 7.

    Naiman, J., Fraser, F. C.: Agenesis of the corpus callosum. A report of two cases in siblings. Arch. Neurol. Psychiat. (Chic.) 74, 182–185 (1955)

    Google Scholar 

  8. 8.

    Shapira, Y., Cohen, T.: Agenesis of the corpus callosum in two sisters. J. med. Genet. 10, 266–269 (1973)

    Google Scholar 

  9. 9.

    Slager, U. T., Kelly, A. B., Wagner, J. A.: Congenital absence of the corpus callosum. Report of a case and review of the literature. New Engl. J. Med. 256, 1171–1176 (1957)

    Google Scholar 

  10. 10.

    Van Epps, E. F.: Agenesis of the corpus callosum with concomitant malformations, including atresia of the foramens of Luschka and Magendie. Amer. J. Roentgenol. 70, 47–60 (1953)

    Google Scholar 

  11. 11.

    Weinstein, E. D.: Sex-linked imperforate anus. Pediatrics 35, 715–718 (1965)

    Google Scholar 

  12. 12.

    Zellweger, H.: Agenesia corporis callosi. Helv. paediat. Acta 7, 136–155 (1952)

    Google Scholar 

  13. 13.

    Ziegler, E.: Bösartige, familiäre, frühinfantile Krampfkrankheit, teilweise verbunden mit Balkenaplasie. Helv. paediat. Acta 13, 169–184 (1958)

    Google Scholar 

Download references

Author information

Affiliations

Authors

Additional information

Paper No. 1705 from the University of Wisconsin Genetics Laboratory

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Opitz, J.M., Kaveggia, E.G. Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z. Kinder-Heilk. 117, 1–18 (1974). https://doi.org/10.1007/BF00439020

Download citation

Key words

  • Multiple congenital anomaly/mental retardation (MCA/MR) syndrome
  • Growth disturbances
  • Increased headsize
  • Hypotonia
  • Imperforate anus
  • Partial agenesis of corpus callosum
  • Pyloric stenosis
  • Generalized dilatation of urinary tract
  • Hypoplastic left heart defect
  • Syndactyly of toes and/or fingers
  • Craniosynostosis
  • X-linked inheritance