Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

Autor: M. Warming Jørgensen, Karl Oliver Kagan, M. Schøler Nørgaard, Olav Bjørn Petersen, J. Pinner, Puk Sandager, V. Gjørup, Ida Vogel, Ritu Mogra

Publikováno v: Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : description of phenotype of HRAS exon 1 mutations ', Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281
Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : A description of the phenotype of HRAS exon 1 mutations ', Ultrasound in Obstetrics & Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281

This is a description of similar prenatal ultrasound findings in five cases of fetal Costello syndrome from 3 countries. We suggest that Costello syndrome (CS) may be recognizable prenatally, is more prevalent in utero than previously described, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08bd7e306f1adc52b05b23b1d4e7847
https://doi.org/10.1002/uog.20281

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

Autor: Mette Ramsing, Naja Becher, Heidi Kristine Støve, Ida Vogel, V. Gjørup, Else Marie Vestergaard

Publikováno v: Støve, H K, Becher, N, Gjørup, V, Ramsing, M, Vogel, I & Vestergaard, E M 2017, ' First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray ', Clinical Case Reports, vol. 5, no. 5, pp. 608-612 . https://doi.org/10.1002/ccr3.902
Clinical Case Reports

Key Clinical Message Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab4c65842be84d4627529f13ca1c6b9
https://pure.au.dk/portal/da/publications/first-reported-case-of-simpsongolabibehmel-syndrome-in-a-female-fetus-diagnosed-prenatally-with-chromosomal-microarray(e7559fa9-09d8-436f-9f19-aed8f4ea2957).html

OC03.02: Prenatal detected isolated right aortic arch: insignificant or significant knowledge?

Autor: Eva Hoseth, V. Gjørup, Olav Bjørn Petersen

Publikováno v: Ultrasound in Obstetrics & Gynecology. 50:5-5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::67fc3e1c9f68b1440e2e8b1a7d2e2147
https://doi.org/10.1002/uog.17581

P26.16: First trimester diagnosis of Pentalogy of Cantrell and hypercoiling of the umbilical cord

Autor: Olav Bj Petersen, Ida Vogel, Mette Ramsing, Else Marie Vestergaard, V. Gjørup

Publikováno v: Ultrasound in Obstetrics & Gynecology. 40:272-273

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9277fd14d7398521109566f95e86c226
https://doi.org/10.1002/uog.12128

OP04.05: Public 1st and 2nd trimester prenatal screening to all women: participation and satisfaction in a Danish region

Autor: F. H. Pedersen, M. Q. Holsting, I. Stornes, V. Ersbak, Olav Bjørn Petersen, Jannie Dalby Salvig, V. Gjørup

Publikováno v: Petersen, O B, Holsting, M, Gjørup, V, Ersbak, V, Stornes, I, Pedersen, F H & Salvig, J D 2010, ' OP04.05: Public 1st and 2nd trimester prenatal screening to all women: participation and satisfaction in a Danish region ', Ultrasound in Obstetrics & Gynecology, vol. 36, no. S1, pp. 62-63 . https://doi.org/10.1002/uog.7958

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00753b1924bf82378055fba932eee326
https://doi.org/10.1002/uog.7958