Preview

Medical Genetics

Advanced search

Case of campomelic dysplasia in the first trimester of pregnancy: ultrasound and pathological findings

https://doi.org/10.1234/XXXX-XXXX-2016-7-45-48

Abstract

We report on a case of the prenatal ultrasound diagnosis of campomelic dysplasia at 12 wk of gestation. The ultrasound examination showed increased nuchal translucency and abnormally short and bowed legs. Pathological and histological studies confirmed the presence of campomelic dysplasia in the aborted fetus

About the Authors

A. A. Lazarevich
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation


I. V. Novikova
Republican Scientific-Practical Centre «Mother and Child»
Russian Federation


References

1. OMIM #114 290 Campomelic dysplasia. John Hopkins University. Updated: 5/08/2014

2. Michel-Calemand L, Lesca G, Morel1 Y, et al. Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester. 2004 Prenat Diagn 2004; 24: 519-523.

3. Marsoosi V. First trimester diagnosis of campomelic dysplasia. 17th World Congress on Ultrasound in Obstetrics and Gynecology Poster abstracts P50.17 Ultrasound in Obstetrics & Gynecology 2007; 30: 648.

4. Massardier J, Roth P, Michel-Calemard L, et al. Campomelic Dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther 2008; 24: 452-457.

5. Gentilin B, Forzano F, Bedeschiet MF, et al. Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. Ultrasound Obstet Gynecol 2010; 36: 315-323.

6. Лазаревич АА, Новикова ИВ. Морфологические нормативные показатели биометрии скелета плода i триместра. Современные перинатальные медицинские технологии в решении проблем демографической безопасности. Сборник научных трудов. 2014; (7):152-157.

7. Hafner E, Schuchter K, Liebhart E, PhilippK. Results of routine fetal nuchal translucency measurement at weeks 10-13 in 4,233 unselected pregnant women. Prenat Diagn. 1998; 18: 29-34.

8. Goktolga U, Keskin U, Gezginc K, et al. Prenatal diagnosis of campomelic dysplasia at the first trimester: case report. BMMR. 2007; 10(2): 89-91.

9. Tonni G, Ventura A, Pattacini P, et al. p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia. J. Obstet. Gynaecol. 2013 May 39(5): 1085-1091.


Review

For citations:


Lazarevich A.A., Novikova I.V. Case of campomelic dysplasia in the first trimester of pregnancy: ultrasound and pathological findings. Medical Genetics. 2016;15(7):45-48. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-7-45-48

Views: 889


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)