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thanatophoric dwarfism


Definition: a lethal dwarfism characterized by micromelia, bowed long bones, enlarged head, flattened vertebral bodies, and muscular hypotonia; lack of pulmonary ventilation causes respiratory difficulties with cyanosis leading to death within the first few hours or days after birth; inherited as a new autosomal dominant, caused by a mutation in the FGFR3 gene.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.