Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. Issue 2 (13th September 2016)

• Record Type: Journal Article
• Authors: Mary, Laura; Scheidecker, Sophie; Kohler, Monique; Lombardi, Maria‐Paola; Delezoide, Anne‐Lise; Auberger, Elisabeth; Triau, Stéphane; Colin, Estelle; Gerard, Marion; Grzeschik, Karl‐Heinz; Dollfus, Hélène; Antal, Maria Cristina
• Is Part Of: American journal of medical genetics. Volume 173:Issue 2(2017)
• Page Start: 479
• Page End: 486
• Publication Date: 2016-09-13
• Subjects: focal dermal hypoplasia -- Goltz–Gorlin syndrome -- prenatal diagnosis -- fetal phenotype -- histology; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37974
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : 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. © 2016 Wiley Periodicals, Inc.