Thanatophoric dysplasia was originally described by Maroteaux et al. in 1967. The term “thanatophoric” was coined to mean “death bearing” in Greek. Thanatophoric dysplasia is probably the most common lethal neonatal dwarfism with an estimated incidence of 0.2–0.5 per 10,000 births.
KeywordsOsteogenesis Imperfecta Preimplantation Genetic Diagnosis Acanthosis Nigricans Stop Codon Mutation Thanatophoric Dysplasia
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