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Related Experiment Videos

[Thanatophoric dwarfism].

R Frahm

    Der Radiologe
    |December 1, 1986
    PubMed
    Summary

    Thanatophoric dwarfism type I presents distinct physical and radiological signs. Early diagnosis via ultrasound and radiography, around 18 weeks gestation, is crucial due to the condition's lethal prognosis, guiding pregnancy management decisions.

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    Area of Science:

    • Medical Genetics
    • Prenatal Diagnosis
    • Skeletal Dysplasias

    Background:

    • Thanatophoric dwarfism type I (TD I) is a severe skeletal dysplasia.
    • Affected infants exhibit characteristic external and radiological features.
    • Pregnancy complications like hydramnios or premature birth were not observed in this cohort.