Thanatophoric dysplasia detected during prenatal period
Journal Title: Dokuz Eylul Universitesi Tip Fakultesi Dergisi - Year 2017, Vol 31, Issue 3
Abstract
Thanatophoric dysplasia is one of the newborn’s dwarfism syndromes usually resulting in death during perinatal period and manifesting as short extremities. It is characterized by macrocephaly, prominent forehead, narrow thorax, short extremities, flattened vertebral bodies, curved femurs. This is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene and shows autosomal dominant inheritance model. In this report, we presented a case with abnormal USG findings during perinatal period and detected to carry a p.R248C mutation in FGFR3 gene in amniosynthesis fluid.
Authors and Affiliations
Hande ÖZKALAYCI, Esra ATAMAN, Murat CELİLOĞLU, Erdener ÖZER, Ayfer ÜLGENALP, Derya ERÇAL, Elçin BORA
Keywords
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- EP ID EP413224
- DOI 10.5505/deutfd.2017.04909
- Views 80
- Downloads 0
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