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.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Houston, C. S., Awen, C. F. and Kent H. P. 1972. Fetal neonatal dwarfism. Canad. J. Radiol. 23, 45.
Jiminez, R. B., Holmes, L. B., Kaiser, J. S. and Weber, A. L. 1973. Achondrogenesis. Paediatrics. 51, 1087.
Laxova, R., O'Hara, P. T., Ridler, M. A. C. and Timothy, J. A. D. 1973. Family with probable achondrogenesis and lipid inclusions in fibroblasts. Arch. Dis. Childhood. 48, 212.
Spranger, J. W., Langer, L. O. anr Wiedemann, H. R. 1974. Achondrogenesis.In “Bone Dysplasias —An Atlas of Constitutional Disorders of Skeletal Developments”. Stuttgart. Philadelphia. W. B. Saunders. Gustav Fischer Verlag. pp. 24–28.
Stevenson, A. C. 1957. Achondroplasia: an account of the condition in Northern Ireland. Amer. J. Hum. Genetics. 9, 81.
Saldino, R. M. 1971. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Amer. J. Roentgen. Rad. Ther. Nuc. Med. 122, 185.
About this article
Cite this article
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
- Genetic Counselling
- Parental Consanguinity
- Bone Dysplasia