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Diagnosis of hypochondroplasia: the role of radiological interpretation

✍ Scribed by Chiara Prinster; Maurizia Del Maschio; Giampiero Beluffi; Mohamad Maghnie; Giovanna Weber; Alessandro Del Maschio; Giuseppe Chiumello; S. Mora; Italian Study Group for Hypochondroplasia

Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
172 KB
Volume
31
Category
Article
ISSN
0301-0449

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## Abstract Hypochondroplasia (HCH) is the mildest phenotype among fibroblast growth factor receptor 3 (__FGFR3)__‐associated skeletal dysplasias. Affected individuals usually presents with mild short stature in preschool age. It was uncommon that a diagnosis of HCH is made in young affected childr

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Comparison of clinical-radiological and molecular findings in hypochondroplasia
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Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FG