Thanatophoric dysplasia

Thanatophoric dysplasia, Type 1, at 12 weeks and 1 day of gestation demonstrating severe micromelia, short curved femur, small chest in association with enlarged NT.

(A) Severe micromelia of lower limbs with short curved femurs (arrows).

(B) Sagittal image body demonstrates hypoplastic chest concerning for pulmonary hypoplasia. Dashed line demonstrates small thorax as compared to abdomen.