Ethan Frome

Type II Osteogenesis Imperfecta (Lethal Form)

A normal ultrasound at 17 weeks of gestation excludes the diagnosis. Subjective demineralization of fetal bones. Note the exquisite visualization of the near field choroid plexus in the fetus with absent cranial ossification (normal cranial ossification on the left images demonstrates that the near field is obscured by reverberation from the near field ventricle).

4. Femora >3SD below the expected mean femoral length for that gestational age (severe micromelia). 5. Bones are short and broad.
Small thick, bowed femur on gray-scale and 3D imaging

Multiple fractures in a single bone: Wrinkled appearance to the bone. Discontinuity of the bone. Thick callous



	Radius + ulna (3D)
	Tibia + fibula (3D)
Tibial fracture (2D and 3D)

Humerus - micromelia + acute angulation due to fracture

Ribs: Thin and beaded. ± Fractures. Concave thorax.


Thorax: Thoracic circumference below 2.5^th percentile. Bell shaped chest (concave thorax and protuberant abdomen)

Calvarium: Thin. Echopenic due to non-mineralization. Abnormal compressibility (may therefore get varying cranial biometry). Exquisitely clear visualization of intracranial contents due to the lack of near field reverberation).
14 wks	34 wks

Compressible cranial vault by transducer due to absent ossification

5. Pseudotalipes – due to the bowing and fractures.

6. Spine: a. Platyspondyly. b. Normal ossification.

7. Other features: a. Wormian bones in the skull. b. Metaphyseal flaring. c. Platyspondyly. d. Polyhydramnios.