Published in:
Open Access
01-12-2015 | Oral presentation
Criteria of radiological diagnosis for neonates with hypochondroplasia
Authors:
Keisuke Nagasaki, Tomoko Saito, Masaki Takagi, Tomonobu Hasegawa, Gen Nishimura
Published in:
International Journal of Pediatric Endocrinology
|
Special Issue 1/2015
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Excerpt
The diagnosis of hypochondroplasia (HCH) is hampered by absence of radiological criteria relevant to the age-dependent manifestations, particularly those in the neonatal period. This work deals with the radiological features in hypochondroplastic neonates with a FGFR3 mutation, including quantitative measurement that facilitates the definitive diagnosis. We propose the radiological criteria for HCH in the neonatal period. …