caa a22 4500 445306335 CHVBK 20180317142614.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s00404-009-1279-6 doi (NATIONALLICENCE)springer-10.1007/s00404-009-1279-6 A case of third trimester diagnosis of Cornelia de Lange syndrome [Elektronische Daten] [V. Kanellopoulos, C. Iavazzo, C. Tzanatou, E. Papadakis, K. Tassis] Aim: The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome. Case: A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome. Conclusion: The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary. Springer-Verlag, 2009 Facial anomalies nationallicence Limb anomalies nationallicence Hypertrichosis nationallicence Cornelia de Lange syndrome nationallicence Kanellopoulos V. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut Iavazzo C. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut Tzanatou C. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut Papadakis E. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut Tassis K. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut Archives of Gynecology and Obstetrics Springer-Verlag 283/1(2011-01-01), 59-63 0932-0067 283:1<59 2011 283 404 https://doi.org/10.1007/s00404-009-1279-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00404-009-1279-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kanellopoulos V. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut NATIONALLICENCE 700 1- Iavazzo C. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut NATIONALLICENCE 700 1- Tzanatou C. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut NATIONALLICENCE 700 1- Papadakis E. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut NATIONALLICENCE 700 1- Tassis K. Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece aut NATIONALLICENCE 773 0- Archives of Gynecology and Obstetrics Springer-Verlag 283/1(2011-01-01), 59-63 0932-0067 283:1<59 2011 283 404 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer