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伴有外周性骨发育不全的索托斯综合征(脑性巨人症)。

Sotos' syndrome (cerebral gigantism) with peripheral dysostosis.

作者信息

Evans P R

出版信息

Arch Dis Child. 1971 Apr;46(246):199-202. doi: 10.1136/adc.46.246.199.

Abstract

A girl had short stumpy hands and feet due to osseous dystrophy; in other respects she showed all the main and many of the minor features of Sotos' syndrome during infancy. Then she was on the 97th centile for height, but she grew to be a woman on the 10th centile. Menarche was at 12¾ years; growth in height stopped before 14½ though epiphysial fusion had not occurred; educational difficulties were still being fought at 18 years but she was well adjusted and happy.

摘要

一名女孩因骨营养不良而手脚短小粗短;在其他方面,她在婴儿期表现出索托斯综合征的所有主要特征和许多次要特征。那时她的身高处于第97百分位,但长大后成为一名身高处于第10百分位的女性。月经初潮在12¾岁;尽管骨骺尚未融合,但身高增长在14½岁之前就停止了;18岁时仍在努力克服学习困难,但她适应良好且快乐。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe15/1647461/be8153f51826/archdisch00880-0093-a.jpg

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