Publication: Thanatophoric dysplasia: Roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient
Issued Date
2006-09-15
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ISSN
01252208
01252208
01252208
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2-s2.0-33748495566
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.89, No.8 (2006), 1287-1292
Suggested Citation
Duangrurdee Wattanasirichaigoon, Dussadee Charoenpipop Thanatophoric dysplasia: Roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient. Journal of the Medical Association of Thailand. Vol.89, No.8 (2006), 1287-1292. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/23600
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Title
Thanatophoric dysplasia: Roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient
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Abstract
Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births. This condition shares some similarity of radiological findings with other types of lethal skeletal dysplasias. Definite diagnosis is necessary for accurate medical and genetic counseling. The authors describe a male neonate who had characteristic features of thanatophoric dysplasia type I including severe shortening of limbs with redundant skin folds, large head, frontal bossing, depressed nasal bridge, and narrow thoracic cage with severe respiratory insufficiency. Postmortem radiographs revealed short ribs, flat vertebral bodies (platyspondyly), hypoplastic iliac bones, marked shortening of long bones including short and mild bowing of both femora, oval radiolucent area of proximal femur. Molecular analysis of Fibroblast Growth Factor Receptor 3 (FGFR3) gene identified a de novo mutation, p.R248C, in exon 7.