Article
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
American journal of medical genetics. Part A - 1 Feb 2017
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
Abstract excerpt
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...
Topics
- Abortion, Induced
- Acyltransferases
- Autopsy
- DNA Mutational Analysis
- Female
- Fetus
- Focal Dermal Hypoplasia
- Genetic Association Studies
- Genetic Testing
- Genotype
- Humans
- Male
- Membrane Proteins