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

研究成果: Article

抜粋

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

元の言語English
ページ(範囲)13-16
ページ数4
ジャーナルclinical pediatric endocrinology
10
発行部数1
DOI
出版物ステータスPublished - 2001 12 1

ASJC Scopus subject areas

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

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