THE GENETICS OF THANATOPHORIC DWARFISM

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Abstract
Two cases of thanatophoric dwarfism are presented with guidelines for diagnosis. A review of the literature is made, and from that, a discussion of possible genetic mechanisms is made. Although data favor a polygenic mechanism at the present time, it is possible that some cases are due to autosomal recessive inheritance. An empiric recurrence risk of 1:50 is suggested by cases published to date. This is in marked contrast to the small recurrence risk for sporadic cases of classical achondroplasia and the importance of differentiation between these two entities cannot be overemphasized.

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