Auxological and radiological manifestations of patients with hypochondroplasia negative for N540K mutation in fibroblast growth factor receptor 3 gene

Shinya Tamai, Yoko Tanaka, Rika Kizu, Tomohiro Ishii, Koji Muroya, Seiji Sato, Gen Nishimura, Nobutake Matsuo

Research output: Contribution to journalArticle

Abstract

To clarify the auxological and radiological features of hypochondroplasia patients negative for the N540K mutation in FGFR3 gene, eight patients who were radiologically diagnosed as having hypochondroplasia were enrolled in this study (6 males and 2 females); their median age was 10.9 years (range: 5.75-21.75). They were studied for the relationship between auxological and radiological features, and genetic findings. Six patients negative for the N540K mutation had a less severe phenotype, presenting as short stature with less obvious disproportion, with or without relative macrocephaly, and with or without lumbar interpedicular narrowing. These results suggest that hypochondroplasia patients negative for the N540K mutation are heterogeneous in etiology and overlap with constitutional short stature. Copyright

Original languageEnglish
Pages (from-to)13-16
Number of pages4
Journalclinical pediatric endocrinology
Volume10
Issue number1
DOIs
Publication statusPublished - 2001 Dec 1

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Keywords

  • Disproportion
  • Fibroblast growth factor receptor 3 (FGFR3)
  • Hypochondroplasia
  • Radiological diagnosis
  • Short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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