Thanatophoric dysplasia, type II

Alberto Hernandez , MD

This is a 32-year-old woman, G5 P4 (4 previous normal pregnancies). She is referred for hydrocephalus at 33 weeks of pregnancy. The findings are:
* severe hydrocephalus,
* images suggestive of encephalocele (artery seen on color Doppler, 3-D rendering)
* low-set ears, 
* normal calcification of calvarium,
* frontal bossing,
* depressed nasal bridge,
* exophtalmos,
* short ribs, narrow thorax,
* severe rhizo-micromelia of limbs,
* bowed bones
* polyhydramnios,
* normal cardiac 4-chamber view and normal outflow tracts,

This represents thanatophoric displasia type II. What might appear as a encephalocele is simply the clover-leaf shape skull.

..narrow chest

narrow chest-abdomen
narrow chest

* severe hydrocephalus,

hydrocephalus2
hydrocephalus
severe hydrocephalus 3
severe hydrocephalus 4
severe hydrocephalus

* images suggestive of encephalocele (artery seen on color Doppler, 3-D rendering)

doppler encephalocele 2
encephalocele
occipital defect

* low-set ears,

* normal calcification of calvarium,

* frontal bossing,

frontalbossing an sphenoid defet

* depressed nasal bridge,

* exophtalmos,

* short ribs, narrow thorax,

abdomen
short rib

* severe rhizo-micromelia of limbs,

short femur
short fibula

short humerus
short radius

short tibia
short tibia

* bowed bones

bowed bones

* polyhydramnios,

polihydramnios

* normal cardiac 4-chamber view and normal outflow tracts,

narrow chest
normal right outflow tract

sphenoid defects

sphenoid defect
   

fingers

fingers

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