Article

Acrocallosal syndrome in two African brothers born to consanguineous parents

  1. Dr. Arnold L. Christianson1,*,
  2. Philip A. Venter2,
  3. Joan L. Du Toit3,
  4. Nancy Shipalana4,
  5. George S. Gericke1

Article first published online: 7 JUN 2005

DOI: 10.1002/ajmg.1320510204

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 51, Issue 2, pages 98–101, 1 June 1994

Additional Information

How to Cite

Christianson, A. L., Venter, P. A., Du Toit, J. L., Shipalana, N. and Gericke, G. S. (1994), Acrocallosal syndrome in two African brothers born to consanguineous parents. American Journal of Medical Genetics, 51: 98–101. doi: 10.1002/ajmg.1320510204

Author Information

  1. 1

    Department of Human Genetics and Developmental Biology, University of Pretoria, Pretoria, South Africa

  2. 2

    Department of Medical Sciences, University of the North, Sovenga, South Africa

  3. 3

    Genetic Services, Department of National Health and Population Development, Pretoria, South Africa

  4. 4

    Letaba Hospital, Gazankulu, South Africa

*Department of Human Genetics, Faculty of Medicine, University of Pretoria, P.O. Box 2034, Pretoria 0001, South Africa

Publication History

  1. Issue published online: 7 JUN 2005
  2. Article first published online: 7 JUN 2005
  3. Manuscript Revised: 20 DEC 1993
  4. Manuscript Received: 9 JUN 1993

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Keywords:

  • acrocallosal syndrome;
  • agenesis of the corpus callosum;
  • autosomal recessive inheritance;
  • consanguinity;
  • postnatal growth retardation;
  • pre and post-axial polydactyly

Abstract

We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. © 1994 Wiley-Liss, Inc.

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