Pediatr. praxi. 2013;14(6):386-388
Thanatophoric dysplasia
- 1 Oddělení neonatologie, FN Ostrava
- 2 Lékařská fakulta OU v Ostravě
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
Published: December 1, 2013 Show citation
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