Albuisson, Juliette

Belarbi, Nadia

Bruneval, Patrick

Capri, Yline

Delezoide, Anne-Lise

Guimiot, Fabien

Khung-Savatovsky, Suonavy

Letard, Pascaline

Loeys, Bart

Schepers, Dorien

Spaggiari, Emmanuel

van de Beek, Gerarda

Abstract: EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of the EFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). We performed a thorough histological analysis and discuss differential diagnoses, genotype-phenotype correlations, and the challenge of prenatal diagnosis of this disease. (c) 2018 S. Karger AG, Base

Institutional Repository Universiteit Antwerpen

Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2

Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2

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Institutional Repository Universiteit Antwerpen