Open AccessPrenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
Author(s) -
Jeppesen Bolette F.,
Hove Hanne B.,
Kreiborg Sven,
Hermann Nuno V.,
Darvann Tron A.,
Jørgensen Finn Stener
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.784
Subject(s) - medicine , prenatal diagnosis , presentation (obstetrics) , pediatrics , ultrasound , pregnancy , genetic counseling , obstetrics , fetus , radiology , genetics , biology
Key Clinical Message 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.