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Thanatophoric dysplasia type I: a rare case report at fetal autopsy
Reshma S Davanageri1, Parul D Shokeen1, Hema B Bannur1
1Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India.
Journal of Laboratory Physicians
|October 21, 2014
Abstract:
Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

