Published December 18, 2022 | Version v1
Journal article Open

CONTRIBUTION OF ULTRASOUND IN THE DIAGNOSIS OF THANATOPHORE DYSPLASIA:ABOUT A CASE IN BAMAKO

Authors/Creators

  • 1. Medical Imaging Department of the Marie Curie Medical Clinic in Bamako-Mali.
  • 2. Radiology Department Of The Military Camp Health Center Bamako-Mali.
  • 3. Radiology Department Of The Reference Health Center Of Commune III of Bamako-Mali.
  • 4. Radiology Department Of The Reference Health Center Of Commune II of Bamako-Mali.
  • 5. Radiology Department Of The University Hospital Center of Kati-Mali.
  • 6. Radiology Department Of The University Hospital Center Gabriel TOURE Bamako-Mali.
  • 7. Radiology Department Of The University Hospital Center Of Point G Bamako-Mali.

Description

Thanatophore dysplasia is a rare lethal bone dysplasia. It is caused bya genetic mutation. There are two subtypes which are very similar in their distinct radiological characteristics and genetic mutations. Early diagnosis is imperative and based on antenatal ultrasound data.We report a case of type I thanatophore dysplasia diagnosed at 32 weeks of amenorrhea and 14 days by a routine antenatal ultrasound in an 18-year-old woman, with no known family malformation history, at the commune II reference health center. of the district of Bamako. The objective of this work is to clarify the contribution of ultrasound in the diagnosis of thanatophore dysplasia.

 

Files

50.pdf

Files (298.9 kB)

Name Size Download all
md5:644159cd5864fe6043cb223c9eb93f4f
298.9 kB Preview Download