Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

详细信息    查看全文

• 作者：Laura Mary ; Sophie Scheidecker ; Monique Kohler ; Maria-Paola Lombardi ; Anne-Lise Delezoide ; Elisabeth Auberger ; Sté ; phane Triau ; Estelle Colin ; Marion Gerard ; Karl-Heinz Grzeschik ; Hé ; lè ; ne Dollfus and Maria Cristina Antal
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：173
• 期：2
• 页码：479-486
• 全文大小：748K
• ISSN：1552-4833

文摘

Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype are not straightforward impacting the quality of the prenatal diagnosis. We describe in depth the ultrasound, radiological, macroscopical, and histological phenotype of three female fetuses with a severe form of FDH, propose a review of the literature and an attempt to delineate minimal and cardinal signs for FDH diagnosis. This report confirms the variability of FDH phenotype, highlights unreported FDH features, and allows delineating evocative clinical associations for prenatal diagnosis, namely intrauterine growth retardation, limbs malformations, anterior wall/diaphragm defects, and eye anomalies.