Langer L O, Yang S S, Hall J G, Sommer A, Kottamasu S R, Golabi M, Krassikoff N
Department of Radiology, University of Minnesota, Minneapolis.
Am J Med Genet Suppl. 1987;3:167-79. doi: 10.1002/ajmg.1320280521.
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.