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
