What is it about?
This new biomarker sign can permit specific diagnosis of this lethal skeletal dysplasia, thanatophoric dysplasia.
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Why is it important?
Simple additional view in all short limb skeletal dysplasias make help to make a specific diagnosis of a thanatophoric dysplasia short - limb lethal dwarf. This information is crucial to the family.
Perspectives
Temporal lobe dysplasia is a sign which should be looked at in all short limb skeletal dysplasias in order to help distinguish the most common lethal form thanatophoric dysplasia. This is a challenging group, thus specific signs are so helpful.
Phyllis Glanc
Read the Original
This page is a summary of: Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia, Ultrasound in Obstetrics and Gynecology, October 2014, Wiley,
DOI: 10.1002/uog.13337.
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