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Indian Journal of Pathology and Microbiology
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CASE REPORT
Year : 2021  |  Volume : 64  |  Issue : 4  |  Page : 776-779

Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis


1 Department of Pathology, IPGME&R, Kolkata, West Bengal, India
2 Department of Neonatology, IPGME&R, Kolkata, West Bengal, India
3 Department of Pathology, Coochbehar Government Medical College, Cooch Behar, West Bengal, India

Correspondence Address:
Uttara Chatterjee
Professor, Department of Pathology, Institute of Post Graduate Medical Education and Research, Kolkata - 700 020, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_917_20

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Thanatophoric dysplasia type 1 (TD1) is a lethal form of osteochondral dysplasia due to mutation of FGFR3 gene. In addition to severe shortening of the limbs there is temporo-occipital lobe dysplasia along with a range of other CNS anomalies. In this report we describe the radiological and anatomical features at autopsy in neonate with TD1 along with the CNS anomalies. We have also summarized the key distinguishing features of TD1 from other common types of osteochondral dysplasia. An accurate diagnosis is important for genetic counseling and impact on future pregnancies.


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