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Thanatophric dysplasia have a prominent forehead, depressed nasal bridge, and bulging eyes. The
limbs are extremly short and held extended from the body. The chest is small and pear-shaped.
Affected infants are hypotonic and lack primitive reflexes. Most affected infants are still born or die
within hours of birth. Two cases of thanatophoric dysplasia are presented with gidelines for diagno-
sis. A review of... |