Thanatophoric dysplasia: a case report and review of literature.
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Date
2007-07-22
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Abstract
Autopsy was performed on a fetus of 6 months gestation with sonologic features of skeletal dysplasia to arrive at a pathological diagnosis. Radiograph of fetus was taken which showed short limb bones, curved femora, flattened vertebral bodies with wide intervertebral spaces, bell-shaped chest, short ribs with flared ends which are features described in Thanatophoric dysplasia. This was confirmed by histopathological findings in the epiphyseal growth plate. In this paper, we attempt to describe the radiological and pathological findings of our case with a discussion on comparative literature.
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12 references.
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Indu PS, Poothiode U, Augustine J, Pillai SB. Thanatophoric dysplasia: a case report and review of literature. Indian Journal of Pathology & Microbiology. 2007 Jul; 50(3): 589-92