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Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature
Author(s) -
Mary Laura,
Scheidecker Sophie,
Kohler Monique,
Lombardi MariaPaola,
Delezoide AnneLise,
Auberger Elisabeth,
Triau Stéphane,
Colin Estelle,
Gerard Marion,
Grzeschik KarlHeinz,
Dollfus Hélène,
Antal Maria Cristina
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37974
Subject(s) - medicine , prenatal diagnosis , hypoplasia , fetus , phenotype , diaphragm (acoustics) , ultrasound , anatomy , pathology , radiology , pregnancy , biology , biochemistry , genetics , physics , gene , acoustics , loudspeaker
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.