We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer‐Langer syndrome (BLS) or BLS‐like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co‐dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy.

ZusammenfassungDer zirkuläre Prolaps der inneren Urethralschleimhaut ist ein seltener Befund. Häufiger treten Harnröhrenkarunkel auf, die sich meist aus der dorsalen externen Lippe des Meatus entwickeln. Wir berichten über die chirurgische Resektionstechnik mit Quadrantenresektion bei einer postmenopausalen Patientin mit einem ausgeprägten Urethralprolaps und chronischer Obstipation. Durch die Operation wurde eine schnelle Schmerzfreiheit und Verbesserung der Miktion erzielt. Die Kontinenz blieb erhalten. Alternative Therapien zur Resektion sind konservative Therapieversuche mit Sitzbädern und oestrogenhaltigen Salben, manuelle Reposition in Narkose und die zirkuläre Ligatur des Prolapses um einen liegendem transurethralen Blasenkatheter.