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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type II
2004-02-11-07 Thanatophoric dysplasia, type II © Hernandez www.thefetus.net/

Thanatophoric dysplasia, type II

Alberto Hernandez , MD

Guadalajara Jalisco MEXICO

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

• 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,

sphenoid defects

   

fingers

      

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