Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation

BMC Pregnancy and Childbirth

Lan-Zhen Zhang¹  Xia Li¹  Zhao-Lua Long¹  An-Yun Lin¹  Lin Yu²  Chen-Yu Gou³ 

[1] Department of Obstetrics, the Second Affiliated Hospital of Guangzhou Medical University, No. 250 Changgang East Road, Haizhu District, 510260, Guangzhou, Guangdong Province, China;Department of Radiology, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong Province, China;Fetal Medicine Center, Department of Obstetrics and Gynecology, Sixth Affiliated Hospital of Sun Yat-Sen University, No. 26 Yuancun Erheng Road, 510655, Guangzhou, China;Department of Obstetrics, the Second Affiliated Hospital of Guangzhou Medical University, No. 250 Changgang East Road, Haizhu District, 510260, Guangzhou, Guangdong Province, China;

关键词: Meier-Gorlin syndrome 7 (MGS7);    Intrauterine growth restriction;    CDC45;    Compound heterozygous mutations;    Whole-exome sequencing (WES);   

DOI  :  10.1186/s12884-021-03868-5

来源: Springer

【 摘 要 】

BackgroundMeier-Gorlin syndrome 7 (MGS7) is a rare autosomal recessive condition. We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mutations of CDC45 on chromosome 22 were identified by whole-exome sequencing (WES).Case presentationFetal growth restriction (FGR), craniosynostosis, and brachydactyly of right thumb were found in a fetus of 28th gestational weeks. The fetus was diagnosed as MGS7 clinically. After extensive counseling, the couple opted for prenatal diagnosis by cordocentesis and termination of pregnancy. Karyotype analysis and WES were performed. Chromosomal karyotyping showed that the fetus was 46, XY. There were 2 mutations of CDC45, the causal gene of MGS7 on chromosome 22, which were inherited from the couple respectively were identified by WES. Facial dysmorphism, brachydactyly of right thumb, and genitalia abnormally were proved by postpartum autopsy, and craniosynostosis was confirmed by three-dimensional computed tomography (3D-CT) reconstruction.ConclusionsIt is possible to detect multiple clinical features of Meier-Gorlin syndrome in prenatal sonography. Deteriorative FGR complicated with craniosynostosis indicates MGS7. Combination of 2D and 3D ultrasonography helps to detect craniosynostosis. The affected fetus was confirmed a compound heterozygote of CDC45 related MGS by whole-exome sequencing, which is critical in identifying rare genetic diseases.

【 授权许可】

CC BY