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Achondrogenesis

Summary

Achondrogenesis is a very rare form of shortlimb dwarfism which is invariably lethal. This report describes the first recognised example of Type II achondrogenesis in Northern Ireland. The importance of accurate diagnosis of dwarfism is emphasised because of the implication for genetic counselling.

Achondrogenesis, a form of short-limb dwarfism, is incompatible with life, most affected individuals being stillborn or dying shortly after birth. Although very rare, recognition is not just an academic exercise as only accurate diagnosis permits precise genetic counselling. We report the first case of achondrogenesis recognised in Northern Ireland.

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References

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Correspondence to N. C. Nevin.

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MacHenry, J.C.R.M., Nevin, N.C. & Thomas, P.S. Achondrogenesis. I.J.M.S. 147, 404 (1978). https://doi.org/10.1007/BF02939440

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Keywords

  • Genetic Counselling
  • Parental Consanguinity
  • Achondroplasia
  • Nevin
  • Bone Dysplasia