Thanatophoric dysplasia, type I Julio Navarro, MD Article Published: May 31, 2002 San Salvador, El Salvador C.A. This is a 37 week fetus with Thanatophoric dysplasia. The mother is a G4P3 with no abnormal history. Note the short limbs: femur... and humerus... ... the disproportionally large feet and hand with short stubby fingers The baby has frontal bossing The chest is much smaller than the abdomen And the spine demonstrates the typical platyspondyly (the thin vertebrae). Note how the space between vertebrae (the intervetebral disk and the non ossified portion of the cartilage of the vertebra) is thicker then the ossified parts of the vertebra (in white) No craniosynostosis, thus this is a type I Thanatophoric dysplasia The newborn: Note the frontal bossing, the low nasal bridge, upturned nose, very short arms and short fingers, and the narrow chest, responsible for the pulmonary insufficiency). Side view with frontal bossing, low nasal bridge, low set ears. Short limbs with redundant soft-tissues on a too short skeletal frame. Discussion Board Start a discussion about this article Add to Favorites Favorite