What is it about?
Thanatophoric dwarfism is a rare and lethal congenital bone dysplasia characterized by a narrow thorax, extreme limb shortening, and severe pulmonary hypoplasia. We report the case of a 41-year-old patient who gave birth to a newborn with these abnormalities.
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Why is it important?
Thanatophoric dwarfism (or thanatophoric dysplasia) is a lethal condition belonging to the group of skeletal dysplasias, linked to a mutation in the FGFR3 gene (Fibroblast Growth Factor Receptor 3).
Perspectives
It manifests as a very narrow chest, severe shortening of the long bones, macrocephaly, and often spinal abnormalities. The prognosis is poor, with most newborns dying within the first few hours or days of life due to acute respiratory failure caused by pulmonary hypoplasia.
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This page is a summary of: Lethal Thanatophoric Dwarfism: A Case Report, Journal of Case Reports and Medical History, December 2025, Acquire Publications LLC,
DOI: 10.54289/jcrmh2500162.
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