Rubinstein‐Taybi syndrome: A follow‐up study
Identifieur interne : 00B922 ( Main/Exploration ); précédent : 00B921; suivant : 00B923Rubinstein‐Taybi syndrome: A follow‐up study
Auteurs : M. W. Partington [Canada, Australie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1990.
English descriptors
- KwdEn :
- Aspiration pneumonia, Brachytelephalangy, Broad thumbs, Caries, Case records, Dental caries, Fracture, Hernia, Inguinal hernia, Keloid, Medical problems, Mental retardation, Myopia, Neurogenic bladder, Optic atrophy, Padfield, Partington, Pneumonia, Rectal prolapse, Retardation, Rubinstein, Ruvalcaba, Ruvalcaba syndrome, Short stature, Small group homes, Structural lesions, Survivor, Syndrome, Taybi.
- Teeft :
- Aspiration pneumonia, Brachytelephalangy, Broad thumbs, Caries, Case records, Dental caries, Fracture, Hernia, Inguinal hernia, Keloid, Medical problems, Mental retardation, Myopia, Neurogenic bladder, Optic atrophy, Padfield, Partington, Pneumonia, Rectal prolapse, Retardation, Rubinstein, Ruvalcaba, Ruvalcaba syndrome, Short stature, Small group homes, Structural lesions, Survivor, Syndrome, Taybi.
Abstract
Eighteen patients with a diagnosis of the Rubinstein‐Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring. The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the others.
Url:
DOI: 10.1002/ajmg.1320370611
Affiliations:
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W." last="Partington">M. W. Partington</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Department of Paediatrics, Queen's University, Kingston, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Regional Medical Genetics Unit, c/o Newcastle Western Suburbs Hospital, Turton Road, Waratah</wicri:regionArea><wicri:noRegion>Waratah</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">37</biblScope><biblScope unit="issue">S6</biblScope><biblScope unit="page" from="65">65</biblScope><biblScope unit="page" to="68">68</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1990">1990</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aspiration pneumonia</term><term>Brachytelephalangy</term><term>Broad thumbs</term><term>Caries</term><term>Case records</term><term>Dental caries</term><term>Fracture</term><term>Hernia</term><term>Inguinal hernia</term><term>Keloid</term><term>Medical problems</term><term>Mental retardation</term><term>Myopia</term><term>Neurogenic bladder</term><term>Optic atrophy</term><term>Padfield</term><term>Partington</term><term>Pneumonia</term><term>Rectal prolapse</term><term>Retardation</term><term>Rubinstein</term><term>Ruvalcaba</term><term>Ruvalcaba syndrome</term><term>Short stature</term><term>Small group homes</term><term>Structural lesions</term><term>Survivor</term><term>Syndrome</term><term>Taybi</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Aspiration pneumonia</term><term>Brachytelephalangy</term><term>Broad thumbs</term><term>Caries</term><term>Case records</term><term>Dental caries</term><term>Fracture</term><term>Hernia</term><term>Inguinal hernia</term><term>Keloid</term><term>Medical problems</term><term>Mental retardation</term><term>Myopia</term><term>Neurogenic bladder</term><term>Optic atrophy</term><term>Padfield</term><term>Partington</term><term>Pneumonia</term><term>Rectal prolapse</term><term>Retardation</term><term>Rubinstein</term><term>Ruvalcaba</term><term>Ruvalcaba syndrome</term><term>Short stature</term><term>Small group homes</term><term>Structural lesions</term><term>Survivor</term><term>Syndrome</term><term>Taybi</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Eighteen patients with a diagnosis of the Rubinstein‐Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring. The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the others.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Partington, M W" sort="Partington, M W" uniqKey="Partington M" first="M. W." last="Partington">M. W. Partington</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Partington, M W" sort="Partington, M W" uniqKey="Partington M" first="M. W." last="Partington">M. W. Partington</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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