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Visceral manifestations of hypochondrogenesis

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Abstract

Autopsy of a stillborn neonate with hypochondrogenesis revealed severe cardiac abnormalities and extensive diverticulosis of the proximal region of the small intestine. Visceral ramifications are unusual in hypochondrogenesis; they may reflect heterogeneity of the intramolecular defect in the COL2A1 gene that codes for the achondrogenesis type II–hypochondrogenesis spectrum of disorders.

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Acknowledgment

We are grateful to Professor Judy Hall of Vancouver for her guidance and to Professor A. Superti-Furga of Freiburg for his assistance with the diagnostic process. We are grateful for the support from the National Research Foundation and the Medical Research Council of South Africa.

Conflict of interest statement

We declare that we have no conflict of interest.

Author information

Correspondence to Helen Wainwright.

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Wainwright, H., Beighton, P. Visceral manifestations of hypochondrogenesis. Virchows Arch 453, 203–207 (2008). https://doi.org/10.1007/s00428-008-0630-9

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Keywords

  • Bone dysplasia
  • Cardiac defects
  • Diverticulosis
  • Genetics