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Pediatria pre prax 3/2014
Thanatophoric dysplasia
Thanatophoric dysplasia is the most severe form of dwarfism. The disease incidence is between 1/20 000–50 000 newborns. Despite the low incidence, this is the most common lethal form of dwarfism. Children affected by TD have the typical phenotype: short, deformed limbs, narrow asphyxial chest, relative macrocephaly and deformity of the spine (platyspondyly), the skin is roughened and stacked in the folds. Children are born dead or die shortly after birth. The cause of the lethality of disease is respiratory failure.
Keywords: thanatophoric dysplasia, dwarfism, pulmonary hypoplasia, neonatal respiratory failure.
