Prenatal ultrasound findings of congenital disorders of glycosylation type Id:a case report
10.3969/j.issn.1672-8467.2024.05.033
- VernacularTitle:1例先天性糖基化障碍Id型的产前超声表现
- Author:
Chen ZHU
1
;
Cai-Xia LEI
;
Yun-Yun REN
Author Information
1. 复旦大学附属妇产科医院超声科 上海 200011
- Keywords:
congenital disorder of glycosylation type Id(CDG-Id);
ALG3 gene variants;
prenatal ultrasound;
micrognathia;
cerebellar vermis absence
- From:
Fudan University Journal of Medical Sciences
2024;51(5):864-867
- CountryChina
- Language:Chinese
-
Abstract:
Congenital disorder of glycosylation type Id(CDG-Id)is due to a variation in the ALG3 gene that results in a defect in the encoded alpha-1,3-mannosyltransferase.The pregnant woman in this case was 32 years old,G7P1,whose fifth singleton pregnancy had fetal malformations suggested by ultrasound at another hospital.After termination of pregnancy,she came to Obstetrics and Gynecology Hospital,Fudan University for genetic testing,with the result of ALG3 gene variants[NM_005787:c.67C>T(p.Gln23*),Heterozygote,Paternal;NM_005787:c.1188G>A(p.Trp396*),Heterozygote,Maternal].In this singleton pregnancy at 21 weeks of gestation,prenatal ultrasound at our hospital demonstrated multiple fetal malformations,including micrognathia,cerebellar vermis absence,cystic occupancy of the posterior cranial fossa,all long bones of the limbs being short,scoliosis and stiffness of the finger joints as the main manifestations.The pregnancy was then terminated at another hospital,and subsequent genetic testing results confirmed that it was also due to ALG3 gene variants.This article focuses on the prenatal ultrasound manifestations and genetic features of CDG-Id,in order to improve the understanding of this disorder.
