{Reference Type}: Journal Article
{Title}: NOTCH2 related disorders: Description and review of the fetal presentation.
{Author}: Deb W;Joubert M;Cogné B;Vincent M;Ghesh L;Bézieau S;Le Vaillant C;Beneteau C;
{Journal}: Eur J Med Genet
{Volume}: 66
{Issue}: 7
{Year}: 2023 Jul 28
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2023.104769
{Abstract}: Signs of skeletal dysplasias are relatively common in fetuses with abnormal ultrasound (US) findings. The diversity of congenital skeletal disorders, the possibility of late-onset severe phenotypes and overlapping syndromes can be a challenge in the way of diagnosis, even if prenatal high-throuput sequencing allows for a better diagnosis, prognosis and genetic counseling. Hajdu-Cheney spectrum pathologies are rarely described in prenatal, and the signs associated remain poorly known, and do not include specific postnatal signs as acro-osteolysis and premature osteoporosis. We hereby report a couple for whom a medical termination of pregnancy was performed because a severe polymalformative syndrome associating severely short limbs with bowed long bones, severe cardiopathy, hyperechogenic kidneys and dysmorphism. After fetopathological and radiological examinations, Exome Sequencing (ES) was performed and revealed a de novo truncating mutation in the last exon of NOTCH2, responsible for Hajdu-Cheney or Serpentine Fibula Polycystic Kidney syndromes.