Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

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.

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.

Source: Clinical Case Reports - May 1, 2017 Category: General Medicine Authors: Bolette F. Jeppesen, Hanne B. Hove, Sven Kreiborg, Nuno V. Hermann, Tron A. Darvann, Finn Stener J ørgensen Tags: Case Report Source Type: research