Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
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.
Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Laura
L
Mary
Laboratoire de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Sophie
S
Scheidecker
Service de Gynécologie et Obstétrique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Monique
M
Kohler
Department of Clinical Genetics, Academisch Medisch Centrum, Amsterdam, The Netherlands.
Maria-Paola
MP
Lombardi
Service de Biologie du Développement, Hôpital Robert Debré, Paris, France.
Anne-Lise
AL
Delezoide
Anatomie et Cytologie Pathologiques, Hôpital Simone Veil, Groupement Hospitalier Eaubonne-Montmorency, Montmorency, France.
Elisabeth
E
Auberger
Laboratoire de Pathologie Cellulaire et Tissulaire-Fœtopathologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Stéphane
S
Triau
Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Estelle
E
Colin
Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France.
Marion
M
Gerard
Institut für Allgemeine Humangenetik, Philipps-Universitaet, Marburg, Germany.
Karl-Heinz
KH
Grzeschik
Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.|Faculté de Médecine de Strasbourg, Strasbourg, France.
Hélène
H
Dollfus
Faculté de Médecine de Strasbourg, Strasbourg, France.|Hôpitaux Universitaires de Strasbourg, Strasbourg, France.|Fédération de Médecine Translationnelle, Strasbourg, France.
Maria Cristina
MC
Antal
D000028:Abortion, Induced; D000217:Acyltransferases / Q000235:genetics; D001344:Autopsy; D004252:DNA Mutational Analysis; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011296:Prenatal Diagnosis; D011859:Radiography; D016216:Ultrasonography, Prenatal
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human
Goltz-Gorlin syndrome; fetal phenotype; focal dermal hypoplasia; histology; prenatal diagnosis