Criteria of radiological diagnosis for neonates with hypochondroplasia

Introduction The diagnosis of hypochondroplasia (HCH) is hampered by absence of radiological criteria relevant to the agedependent 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.