Abstract |
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.
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Authors | I Kjaer, B Fischer Hansen |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 71
Issue 2
Pg. 219-21
(Aug 08 1997)
ISSN: 0148-7299 [Print] United States |
PMID | 9217226
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Cervical Vertebrae
(abnormalities, diagnostic imaging)
- Fetal Diseases
(pathology)
- Head and Neck Neoplasms
(pathology)
- Humans
- Lymphangioma, Cystic
(pathology)
- Noonan Syndrome
(pathology)
- Radiography
- Ribs
(abnormalities, diagnostic imaging)
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