Clinical Utility of Testing

Thanatophoric dysplasia is the most clinically severe of the FGFR-related skeletal dysplasias. Discovery of a mutation for thanatophoric dysplasia during pregnancy allows the parents to prepare for the birth of a child who usually will not survive and somewhat changes the focus of the medical management of the delivery toward the care of the mother. Several similar lethal forms of dwarfism also are inherited as autosomal recessive traits with a 25% recurrence risk. The finding of a thanatophoric dysplasia mutation reduces the recurrence risk to the risk of germline mosaicism.

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