Publication: A rare forensic autopsy case report of Thanatophoric dysplasia type I
22
Issued Date
2017-01-01
Resource Type
ISSN
09739130
09739122
09739122
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2-s2.0-85008674631
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Mahidol University
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SCOPUS
Bibliographic Citation
Indian Journal of Forensic Medicine and Toxicology. Vol.11, No.1 (2017), 204-207
Suggested Citation
Vichan Peonim, Rathachai Kaewlai, Smith Srisont, Jitta Udnoon, Wisarn Worasuwannarak A rare forensic autopsy case report of Thanatophoric dysplasia type I. Indian Journal of Forensic Medicine and Toxicology. Vol.11, No.1 (2017), 204-207. doi:10.5958/0973-9130.2017.00042.1 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/42672
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Title
A rare forensic autopsy case report of Thanatophoric dysplasia type I
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Abstract
© 2017, Indian Journal of Forensic Medicine and Toxicology. All rights reserved. Thanatophoric dysplasia (TD) is a rare disease but commonly found in lethal neonatal skeletal dysplasia, which is caused by pR248C mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The incidence is found 1 in 15,000-40,000 births. There are two types including type I and type II by primarily determining skull and femur shape. TD type I found bowed femurs but not commonly found cloverleaf-shaped skull while TD type II found cloverleaf skull but femur was straight. Present report reveals a case of forensic autopsy of male death fetus in utero, which was diagnosed to be TD type I where large head with prominent forehead bones (frontal bossing), depressed nasal bridge, mesomelia of legs, platyspondyly, curved of both humeri and femurs, and lung hypoplasia. Femoral epiphyseal growth plate retardation and disorganization was found microscopically.