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胎儿巨脑症产前诊断 Snijders Blok-Campeau 综合征。

Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly.

机构信息

Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Department of Diagnostic Imaging, The Chaim Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Hashomer, Israel.

出版信息

Fetal Diagn Ther. 2021;48(5):407-410. doi: 10.1159/000514326. Epub 2021 May 17.

DOI:10.1159/000514326
PMID:34000720
Abstract

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.

摘要

我们呈现了产前影像学检查和全新描述的 Snijders Blok-Campeau 大头畸形综合征的全外显子组测序结果。

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1
Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly.胎儿巨脑症产前诊断 Snijders Blok-Campeau 综合征。
Fetal Diagn Ther. 2021;48(5):407-410. doi: 10.1159/000514326. Epub 2021 May 17.
2
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in and Literature Review.斯尼德斯-布洛克-坎普综合征：20 例变异病例的描述及文献复习。
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Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by mutations.由突变引起的斯奈德氏布洛克-坎皮奥综合征中的新型基因型和表型。
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Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.与发育迟缓、大头畸形和面部畸形相关的过度社交行为指向 CHD3 突变。
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引用本文的文献

1
Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by mutations.由突变引起的斯奈德氏布洛克-坎皮奥综合征中的新型基因型和表型。
Front Genet. 2024 Jul 10;15:1347933. doi: 10.3389/fgene.2024.1347933. eCollection 2024.
2
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.非甲状腺肿性先天性甲状腺功能减退症6型与斯奈德-布洛克-坎佩奥综合征的双重诊断
Mol Syndromol. 2024 Jun;15(3):240-246. doi: 10.1159/000535682. Epub 2024 Jan 24.
3
Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.
齐默尔曼-兰巴迪综合征和婴儿系统性玻璃样变性：两个术语描述的重叠特征之谜：病例报告。
BMC Pediatr. 2023 Oct 13;23(1):506. doi: 10.1186/s12887-023-04344-z.
4
Snijders Blok-Campeau syndrome caused by gene mutation: a case report.Snijders Blok-Campeau 综合征由基因突变引起：一例报告。
Zhongguo Dang Dai Er Ke Za Zhi. 2021;23(9):965-968. doi: 10.7499/j.issn.1008-8830.2106091.