Department of Ultrasound, The First Affiliated Hospital of Anhui Medical University, 218 Jixi Road, Hefei, 230022, Anhui, China.
Department of Obstetrics and Gynecology, The No.901 Hospital of the Joint Service of the People's Liberation Army, Hefei, 230022, Anhui, China.
BMC Pregnancy Childbirth. 2022 Feb 4;22(1):100. doi: 10.1186/s12884-022-04430-7.
Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth.
A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible.
This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.
外胚层发育不全是一组遗传性疾病，其特征是两个或多个外胚层结构的先天性缺陷。由于发病率相当低，据我们所知，很少有线索可以帮助做出有效的产前超声诊断。目前，外胚层发育不全的产前诊断取决于胎儿基因检测结合家族史。在本病例报告中，我们介绍了一例胎儿外胚层发育不全，具有显著的产前超声图像、基因检测、家族史和死胎的相关检查。
一名经产妇，22 周单胎男性妊娠，行胎儿超声检查。图像显示上颌骨和下颌骨发育不良。随后，根据家族史和基因检测确定了外胚层发育不全。流产胎儿的皮肤病理学表现为少汗型。引产后的 CT 重建证实了产前超声对上颌骨和下颌骨的发现。
本病例提示产前超声可能为外胚层发育不全提供有价值的线索。进一步的产前基因检测和家族史可确立诊断。
