| Literature DB >> 3130852 |
L O Langer1, S S Yang, J G Hall, A Sommer, S R Kottamasu, M Golabi, N Krassikoff.
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.Entities:
Mesh:
Year: 1987 PMID: 3130852 DOI: 10.1002/ajmg.1320280521
Source DB: PubMed Journal: Am J Med Genet Suppl ISSN: 1040-3787