With respect to the letter by Dr. Seller [1998] concerning our article "Cervical Ribs in Fetuses With Ullrich-Turner syndrome", I should like to respond as follows. The observation of cervical ribs in fetuses with Ullrich-Turner syndrome has, since publication in this journal, been followed up by a
Cervical ribs in fetuses with Ullrich-Turner syndrome
✍ Scribed by Kjær, Inger; Hansen, Birgit Fischer
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 14 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970808)71:2<219::aid-ajmg19>3.0.co;2-h
No coin nor oath required. For personal study only.
✦ Synopsis
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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I read with great interest the recent article ''Cervical Ribs in Fetuses With Ullrich-Turner Syndrome (UTS)'' by Kjaer and Fischer-Hansen [1997]. In their radiological study of nine fetuses with this condition between 15 1/2 and 22 gestational weeks, they found bilateral or unilateral cervical ribs
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Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has de
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