Indian Journal of Pathology and Microbiology
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Year : 2007  |  Volume : 50  |  Issue : 3  |  Page : 589-92

Thanatophoric dysplasia : a case report and review of literature.

Department of Pathology, Medical College, Kottayam

Correspondence Address:
P S Indu
Department of Pathology, Medical College, Kottayam

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Source of Support: None, Conflict of Interest: None

PMID: 17883148

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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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