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Thanatophoric dwarfism is a severe form of micromelic dwarfism which is invariably fatal in the neonatal period.
Extreme flatness of the vertebrae with very tall intervertebral disk spaces serves to differentiate this condition from achondroplasia with which it is usually confused.
The importance of proper identification of this condition for the purpose of proper genetic counseling is pointed out.
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M. Nissenbaum, S. M. K. Chung, H. K. Rosenberg, and B. E. Buck Thanatophoric Dwarfism: Two Case Reports and Survey of the Literature Clinical Pediatrics, August 1, 1977; 16(8): 690 - 697. [Abstract] [PDF] |
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