Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Bolette F Jeppesen; Hanne B Hove; Sven Kreiborg; Nuno V Hermann; Tron A Darvann; Finn Stener Jørgensen

doi:10.1002/ccr3.784

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

Clin Case Rep. 2017 May 16;5(7):1072-1076. doi: 10.1002/ccr3.784. eCollection 2017 Jul.

Authors

Bolette F Jeppesen^{1

2}, Hanne B Hove^{1

3}, Sven Kreiborg^{4

5}, Nuno V Hermann^{4

5}, Tron A Darvann^{5

6}, Finn Stener Jørgensen^{2

7}

Affiliations

¹ Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
² Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark.
³ Department of Clinical Genetics The RAREDIS Database Section of Rare Diseases Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
⁴ Department of Pediatric Dentistry and Clinical Genetics School of Dentistr yFaculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark.
⁵ 3D Craniofacial Image Research Laboratory (School of Dentistry, University of Copenhagen; Centre of Head and Orthopaedics, Copenhagen University Hospital Rigshospitalet; and Department of Applied Mathematics and Computer Science, Technical University of Denmark) Copenhagen Denmark.
⁶ Department of Oral and Maxillofacial Surgery Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
⁷ Fetal Medicine Unit Department of Obstetrics and Gynecology Copenhagen University Hospital Hvidovre Hvidovre Denmark.

Abstract

This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.

Keywords: 3D ultrasound; autosomal recessive Robinow syndrome; genital hypoplasia; hypertelorism; prenatal diagnose; wide nose.

Publication types

Case Reports