TY - JOUR
T1 - Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature
AU - Mary, Laura
AU - Scheidecker, Sophie
AU - Kohler, Monique
AU - Lombardi, Maria-Paola
AU - Delezoide, Anne-Lise
AU - Auberger, Elisabeth
AU - Triau, Stéphane
AU - Colin, Estelle
AU - Gerard, Marion
AU - Grzeschik, Karl-Heinz
AU - Dollfus, Hélène
AU - Antal, Maria Cristina
PY - 2017
Y1 - 2017
N2 - 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
AB - 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
U2 - https://doi.org/10.1002/ajmg.a.37974
DO - https://doi.org/10.1002/ajmg.a.37974
M3 - Article
C2 - 27623003
SN - 1552-4825
VL - 173A
SP - 479
EP - 486
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 2
ER -