Thanatophoric dysplasia and cloverleaf skull

✍ Scribed by Langer, Leonard O. ;Yang, S. Samuel ;Hall, Judith G. ;Sommer, Annemarie ;Kottamasu, Sambasiva R. ;Golabi, Mahin ;Krassikoff, Natalie ;Opitz, John M. ;Bernstein, Jay

• Book ID: 102699728
• Publisher: John Wiley and Sons
• Year: 1987
• Tongue: English
• Weight: 983 KB
• Volume: 28
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320280521

✦ Synopsis

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.