LD24.02
Thanatophoric dysplasia
Displasia tanatofórica
CategoryDefinition
Thanatophoric Dysplasia is a severe skeletal disorder that is lethal in the neonatal period. Two clinically defined TD subtypes have been classified: type I (TDI), characterised by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull deformity of varying severity and type II (TDII), characterised by micromelia with straight femurs and a moderate to severe cloverleaf skull deformity.
Index Terms
Thanatophoric dysplasiaThanatophoric short statureThanatophoric dwarfismthanatophoric dwarfthanatophoric dwarfism or short staturethanatophoric dwarfism syndromeTD - [thanatophoric dwarfism]Thanatophoric dysplasia type IThanatophoric dysplasia type 1Thanatophoric dwarfism type 1Thanatophoric short stature type 1Thanatophoric dysplasia type IIThanatophoric dysplasia type 2Thanatophoric dwarfism type 2Thanatophoric short stature type 2