Cervical ribs in fetuses with Ullrich-Turner syndrome

The purpose of this study was to analyze the cervical skeleton in fetuses with Ullrich-Turner syndrome (45,X) in a search for skeletal characteristics in the neck region affected by hygroma. In connection with requested autopsies, 9 second trimester human fetuses were investigated radiographically by whole-body and special radiography of the spine. The presence of unilateral or bilateral cervical ribs was a constant finding which seems applicable as a phenotypic characteristic of Ullrich-Turner syndrome. This study may also be important in the diagnosis of newborn infants with Ullrich-Turner syndrome.