Ullrich‐Turner syndrome and neurofibromatosis‐1
Identifieur interne : 003416 ( Istex/Curation ); précédent : 003415; suivant : 003417Ullrich‐Turner syndrome and neurofibromatosis‐1
Auteurs : Elizabeth K. Schorry [États-Unis] ; Anne M. Lovell [États-Unis] ; Athena Milatovich [États-Unis] ; Howard M. Saal [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1996-12-30.
Abstract
There is a well‐known association between neurofibromatosis‐1 (NF1) and Noonan syndrome‐like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich‐Turner syndrome. Case 1, a 12‐year‐old white girl, was followed in a Neurofibromatosis Clinic because of multiple café‐au‐lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café‐au‐lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan‐ or Ullrich‐Turner‐like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich‐Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. © 1996 Wiley‐Liss, Inc.
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DOI: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L
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Saal</name><affiliation wicri:level="2"><mods:affiliation>Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Human Genetics, Children's Hospital Medical Center, Cincinnati</wicri:cityArea></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">66</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="423">423</biblScope><biblScope unit="page" to="425">425</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1996-12-30">1996-12-30</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">There is a well‐known association between neurofibromatosis‐1 (NF1) and Noonan syndrome‐like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich‐Turner syndrome. Case 1, a 12‐year‐old white girl, was followed in a Neurofibromatosis Clinic because of multiple café‐au‐lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café‐au‐lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan‐ or Ullrich‐Turner‐like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich‐Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. © 1996 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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