颅缝早闭是 Costello 综合征的一个特征。
Craniosynostosis is a feature of Costello syndrome.
机构信息
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
出版信息
Am J Med Genet A. 2022 Apr;188(4):1280-1286. doi: 10.1002/ajmg.a.62620. Epub 2021 Dec 28.
Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.
Costello 综合征（CS）是一种常染色体显性疾病，由 HRAS 的致病性变异引起。颅缝早闭是其他 RAS 病（Noonan 和心面 Cutaneous 综合征）的已知特征，但不是 CS。我们描述了四个具有 CS 和颅缝早闭的个体，并总结了所有先前报道的具有颅缝早闭和 RAS 病的个体。
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