整形外科と災害外科
Online ISSN : 1349-4333
Print ISSN : 0037-1033
ISSN-L : 0037-1033
Spondyloepiphyseal dysplasia congenita とモルキオ病の症例
奥野 徹子日野 紀典
著者情報
ジャーナル フリー

1974 年 23 巻 3 号 p. 316-321

詳細
抄録

Different types of spondyloepiphyseal dysplasia were reported.
Case 1.
A 14-year-old girl whose parents were psychosis was a dwarfism (height 95.5cm.) with kyphoscoliosis, marked-lumbar lordosis and myopia. X-rays revealed marked coxa vara, knock knees and tongue-like deformity of the eleventh thoracic vertebral body.
Laboratory tests showed no excretion of keratan sulfate in urine.
Case 2.
A 8-year-old girl whose parents were blood relative had showed initially abnormal gait and knock knees in the third year of life. She was a dwarfism (height 102cm.) with pigeon chest and corneal clouding, and her X-rays showed generalized platyspondyly, coxa valga and underdeveloped carpal bones. Keratan sulfate was found in urine.
The case 1. was diagnosed as Spondyloepiphyseal dysplasia congenita and the case 2. as Morquio's disease.

著者関連情報
© 西日本整形・災害外科学会
前の記事 次の記事
feedback
Top