Craniosynostosis is a feature of Costello syndrome

被引：4

作者：

Weaver, K. Nicole ^{[1
,2
]}

Care, Marguerite ^{[2
,3
]}

Wakefield, Emily ^{[1
]}

Zarate, Yuri A. ^{[4
]}

Skoch, Jesse ^{[5
]}

Gripp, Karen W. ^{[6
]}

Prada, Carlos E. ^{[1
,2
,7
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

[3] Dept Radiol, Cincinnati, OH USA

[4] Univ Arkansas Med Sci, Sect Genet & Metab, Little Rock, AR 72205 USA

[5] Univ Cincinnati, Coll Med, Dept Surg, Cincinnati, OH USA

[6] AI DuPont Hosp Children Nemours, Div Med Genet, Delaware, OH USA

[7] Ann & Robert Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 04期

关键词：

Chiari I; Costello syndrome; craniofacial; craniosynostosis; RASopathy; NOONAN SYNDROME; CLINICAL-EVIDENCE; MUTATIONS; PHENOTYPE;

D O I：

10.1002/ajmg.a.62620

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1280 / 1286

页数：7

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