一条漫长的路要走到"矮身综合征"
Federica Gaudioso1, Camilla Meossi2,3,4, Lidia Pezzani1,5
1Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.
Italian journal of pediatrics
|September 28, 2024
概括
银拉塞尔综合征 (SRS) 和其他生长障碍之间的临床相似性可能导致误诊. 患者的非典型特征需要进一步进行遗传分析,以确保准确的诊断和适当的护理途径.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 银拉塞尔综合征 (SRS) 是一种异质性疾病,导致生长迟缓和明显的面部特征.
- 诊断通常依赖于Netchine-Harbison临床评分系统 (NH-CSS).
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