LymphedemaV1, Main, Exploration, bibRecord, 00BF48

Ullrich‐Turner syndrome and neurofibromatosis‐1

Identifieur interne : 00BF48 ( Main/Exploration ); précédent : 00BF47; suivant : 00BF49

Ullrich‐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.

RBID : ISTEX:6F80C4FF030BD2E9234EBC5DA03E246359248A8B

Descripteurs français

KwdFr :
- Enfant, Femelle, Humains, Mosaïcisme, Nanisme, Neurofibromatose de type 1 (), Neurofibromatose de type 1 (génétique), Nouveau-né, Syndrome de Noonan (génétique), Syndrome de Turner (), Syndrome de Turner (génétique), Tumeurs du cerveau (), Tumeurs du cerveau (génétique).
MESH :
- génétique : Neurofibromatose de type 1, Syndrome de Noonan, Syndrome de Turner, Tumeurs du cerveau.
- Enfant, Femelle, Humains, Mosaïcisme, Nanisme, Neurofibromatose de type 1, Nouveau-né, Syndrome de Turner, Tumeurs du cerveau.

English descriptors

KwdEn :
- Brain Neoplasms (complications), Brain Neoplasms (genetics), Child, Dwarfism, Female, Humans, Infant, Newborn, Mosaicism, Neurofibromatosis 1 (complications), Neurofibromatosis 1 (genetics), Noonan Syndrome (genetics), Turner Syndrome (complications), Turner Syndrome (genetics).
MESH :
- complications : Brain Neoplasms, Neurofibromatosis 1, Turner Syndrome.
- genetics : Brain Neoplasms, Neurofibromatosis 1, Noonan Syndrome, Turner Syndrome.
- Child, Dwarfism, Female, Humans, Infant, Newborn, Mosaicism.

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.

Url:

https://api.istex.fr/document/6F80C4FF030BD2E9234EBC5DA03E246359248A8B/fulltext/pdf

DOI: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ullrich‐Turner syndrome and neurofibromatosis‐1</title>
<author><name sortKey="Schorry, Elizabeth K" sort="Schorry, Elizabeth K" uniqKey="Schorry E" first="Elizabeth K." last="Schorry">Elizabeth K. Schorry</name>
</author>
<author><name sortKey="Lovell, Anne M" sort="Lovell, Anne M" uniqKey="Lovell A" first="Anne M." last="Lovell">Anne M. Lovell</name>
</author>
<author><name sortKey="Milatovich, Athena" sort="Milatovich, Athena" uniqKey="Milatovich A" first="Athena" last="Milatovich">Athena Milatovich</name>
</author>
<author><name sortKey="Saal, Howard M" sort="Saal, Howard M" uniqKey="Saal H" first="Howard M." last="Saal">Howard M. Saal</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:6F80C4FF030BD2E9234EBC5DA03E246359248A8B</idno>
<date when="1996" year="1996">1996</date>
<idno type="doi">10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L</idno>
<idno type="url">https://api.istex.fr/document/6F80C4FF030BD2E9234EBC5DA03E246359248A8B/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003416</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003416</idno>
<idno type="wicri:Area/Istex/Curation">003416</idno>
<idno type="wicri:Area/Istex/Checkpoint">004356</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">004356</idno>
<idno type="wicri:doubleKey">0148-7299:1996:Schorry E:ullrich:turner:syndrome</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:8989459</idno>
<idno type="wicri:Area/PubMed/Corpus">005074</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005074</idno>
<idno type="wicri:Area/PubMed/Curation">005074</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005074</idno>
<idno type="wicri:Area/PubMed/Checkpoint">005074</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">005074</idno>
<idno type="wicri:Area/Ncbi/Merge">00B909</idno>
<idno type="wicri:Area/Ncbi/Curation">00B909</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">00B909</idno>
<idno type="wicri:doubleKey">0148-7299:1996:Schorry E:ullrich:turner:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00C802</idno>
<idno type="wicri:Area/Main/Curation">00BF48</idno>
<idno type="wicri:Area/Main/Exploration">00BF48</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Ullrich‐Turner syndrome and neurofibromatosis‐1</title>
<author><name sortKey="Schorry, Elizabeth K" sort="Schorry, Elizabeth K" uniqKey="Schorry E" first="Elizabeth K." last="Schorry">Elizabeth K. Schorry</name>
<affiliation wicri:level="2"><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>
<affiliation></affiliation>
</author>
<author><name sortKey="Lovell, Anne M" sort="Lovell, Anne M" uniqKey="Lovell A" first="Anne M." last="Lovell">Anne M. Lovell</name>
<affiliation wicri:level="2"><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>
<author><name sortKey="Milatovich, Athena" sort="Milatovich, Athena" uniqKey="Milatovich A" first="Athena" last="Milatovich">Athena Milatovich</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Stanford Health Services Cytogenetics Laboratory, Stanford</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Saal, Howard M" sort="Saal, Howard M" uniqKey="Saal H" first="Howard M." last="Saal">Howard M. Saal</name>
<affiliation wicri:level="2"><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><keywords scheme="KwdEn" xml:lang="en"><term>Brain Neoplasms (complications)</term>
<term>Brain Neoplasms (genetics)</term>
<term>Child</term>
<term>Dwarfism</term>
<term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Mosaicism</term>
<term>Neurofibromatosis 1 (complications)</term>
<term>Neurofibromatosis 1 (genetics)</term>
<term>Noonan Syndrome (genetics)</term>
<term>Turner Syndrome (complications)</term>
<term>Turner Syndrome (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mosaïcisme</term>
<term>Nanisme</term>
<term>Neurofibromatose de type 1 ()</term>
<term>Neurofibromatose de type 1 (génétique)</term>
<term>Nouveau-né</term>
<term>Syndrome de Noonan (génétique)</term>
<term>Syndrome de Turner ()</term>
<term>Syndrome de Turner (génétique)</term>
<term>Tumeurs du cerveau ()</term>
<term>Tumeurs du cerveau (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Brain Neoplasms</term>
<term>Neurofibromatosis 1</term>
<term>Turner Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Neoplasms</term>
<term>Neurofibromatosis 1</term>
<term>Noonan Syndrome</term>
<term>Turner Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Neurofibromatose de type 1</term>
<term>Syndrome de Noonan</term>
<term>Syndrome de Turner</term>
<term>Tumeurs du cerveau</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Dwarfism</term>
<term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Mosaicism</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mosaïcisme</term>
<term>Nanisme</term>
<term>Neurofibromatose de type 1</term>
<term>Nouveau-né</term>
<term>Syndrome de Turner</term>
<term>Tumeurs du cerveau</term>
</keywords>
</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>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Ohio</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Ohio"><name sortKey="Schorry, Elizabeth K" sort="Schorry, Elizabeth K" uniqKey="Schorry E" first="Elizabeth K." last="Schorry">Elizabeth K. Schorry</name>
</region>
<name sortKey="Lovell, Anne M" sort="Lovell, Anne M" uniqKey="Lovell A" first="Anne M." last="Lovell">Anne M. Lovell</name>
<name sortKey="Milatovich, Athena" sort="Milatovich, Athena" uniqKey="Milatovich A" first="Athena" last="Milatovich">Athena Milatovich</name>
<name sortKey="Saal, Howard M" sort="Saal, Howard M" uniqKey="Saal H" first="Howard M." last="Saal">Howard M. Saal</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00BF48 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00BF48 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:6F80C4FF030BD2E9234EBC5DA03E246359248A8B
   |texte=   Ullrich‐Turner syndrome and neurofibromatosis‐1
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Ullrich‐Turner syndrome and neurofibromatosis‐1

Ullrich‐Turner syndrome and neurofibromatosis‐1

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.