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Review
. 1987:3:167-79.
doi: 10.1002/ajmg.1320280521.

Thanatophoric dysplasia and cloverleaf skull

L O Langer Jr  1 , S S Yang, J G Hall, A Sommer, S R Kottamasu, M Golabi, N Krassikoff
Affiliations
Review

Thanatophoric dysplasia and cloverleaf skull

L O Langer Jr et al. Am J Med Genet Suppl. 1987.

Abstract

Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteristics differentiate the two types. Only a very few type 1 cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.

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