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Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
Abstract
Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.
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In the citing paper
“This genetic disorder is present in at least 1/5000 individuals [1] and an important cause of joint hypermobility syndrome [2].”
In the citing paper
“Further, the Swedish Patient Registry does not distinguish between various forms of EDS, and we were unable to examine psychiatric disorders and EDS divided into classical (type I) or vascular (type IV) or according to the newer Villefranche Classification of EDS [2].”
In the citing paper
“This classification delineated six subtypes, for which major and minor clinical criteria were defined, and which included the biochemical and molecular basis, when known.”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Beighton et al., 1998
In the citing paper
“Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS.”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Beighton et al., 1998
In the citing paper
“With the elucidation of the biochemical and molecular basis of many of these EDS types, a revised classification, the ' Villefranche Nosology, ' was published in 1998 [Beighton et al., 1998].”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Beighton et al., 1998
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Research works printed but not linked: 23
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Metadata
- Authors
- Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1998-04-28
- Volume
- 77
- Issue
- 1
- Pages
- 31-37
- ISSN
- 0148-7299
- 1096-8628
- Language
- en
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- The paper
- Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998). Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. American Journal of Medical Genetics. https://doi.org/10.1002/(sici)1096-8628(19980428)77%3A1
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