Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.
Identifieur interne : 000A05 ( France/Analysis ); précédent : 000A04; suivant : 000A06Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.
Auteurs : D. Lacombe [France] ; A. Taieb ; P. Masson ; M. Fayon ; J L DemarquezSource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 1991.
Descripteurs français
- KwdFr :
- Aberrations des chromosomes (diagnostic), Aberrations des chromosomes (génétique), Complications de la grossesse, Femelle, Grossesse, Humains, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (étiologie), Maladies chromosomiques, Maladies de la peau (diagnostic), Maladies de la peau (génétique), Maladies foetales (génétique), Mâle, Nouveau-né, Phénotype, Syndrome de Noonan (diagnostic), Syndrome de Noonan (génétique), Syndrome de Noonan (étiologie).
- MESH :
- anatomopathologie : Lymphoedème.
- diagnostic : Aberrations des chromosomes, Maladies de la peau, Syndrome de Noonan.
- génétique : Aberrations des chromosomes, Lymphoedème, Maladies de la peau, Maladies foetales, Syndrome de Noonan.
- étiologie : Lymphoedème, Syndrome de Noonan.
- Complications de la grossesse, Femelle, Grossesse, Humains, Maladies chromosomiques, Mâle, Nouveau-né, Phénotype.
English descriptors
- KwdEn :
- Chromosome Aberrations (diagnosis), Chromosome Aberrations (genetics), Chromosome Disorders, Female, Fetal Diseases (genetics), Humans, Infant, Newborn, Lymphedema (etiology), Lymphedema (genetics), Lymphedema (pathology), Male, Noonan Syndrome (diagnosis), Noonan Syndrome (etiology), Noonan Syndrome (genetics), Phenotype, Pregnancy, Pregnancy Complications, Skin Diseases (diagnosis), Skin Diseases (genetics).
- MESH :
- diagnosis : Chromosome Aberrations, Noonan Syndrome, Skin Diseases.
- etiology : Lymphedema, Noonan Syndrome.
- genetics : Chromosome Aberrations, Fetal Diseases, Lymphedema, Noonan Syndrome, Skin Diseases.
- pathology : Lymphedema.
- Chromosome Disorders, Female, Humans, Infant, Newborn, Male, Phenotype, Pregnancy, Pregnancy Complications.
Abstract
The Noonan syndrome is a multiple congenital anomalies syndrome with variable expressivity and autosomal dominant inheritance. We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.
PubMed: 1799426
Affiliations:
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pubmed:1799426Le document en format XML
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Masson</name></author><author><name sortKey="Fayon, M" sort="Fayon, M" uniqKey="Fayon M" first="M" last="Fayon">M. 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Lacombe</name><affiliation wicri:level="3"><nlm:affiliation>Clinique de Pédiatrie et Génétique médicale, Hôpital des Enfants, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Pédiatrie et Génétique médicale, Hôpital des Enfants, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name></author><author><name sortKey="Masson, P" sort="Masson, P" uniqKey="Masson P" first="P" last="Masson">P. Masson</name></author><author><name sortKey="Fayon, M" sort="Fayon, M" uniqKey="Fayon M" first="M" last="Fayon">M. Fayon</name></author><author><name sortKey="Demarquez, J L" sort="Demarquez, J L" uniqKey="Demarquez J" first="J L" last="Demarquez">J L Demarquez</name></author></analytic><series><title level="j">Genetic counseling (Geneva, Switzerland)</title><idno type="ISSN">1015-8146</idno><imprint><date when="1991" type="published">1991</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Aberrations (diagnosis)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Female</term><term>Fetal Diseases (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphedema (etiology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Noonan Syndrome (diagnosis)</term><term>Noonan Syndrome (etiology)</term><term>Noonan Syndrome (genetics)</term><term>Phenotype</term><term>Pregnancy</term><term>Pregnancy Complications</term><term>Skin Diseases (diagnosis)</term><term>Skin Diseases (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes (diagnostic)</term><term>Aberrations des chromosomes (génétique)</term><term>Complications de la grossesse</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (étiologie)</term><term>Maladies chromosomiques</term><term>Maladies de la peau (diagnostic)</term><term>Maladies de la peau (génétique)</term><term>Maladies foetales (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Phénotype</term><term>Syndrome de Noonan (diagnostic)</term><term>Syndrome de Noonan (génétique)</term><term>Syndrome de Noonan (étiologie)</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chromosome Aberrations</term><term>Noonan Syndrome</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Maladies de la peau</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lymphedema</term><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Fetal Diseases</term><term>Lymphedema</term><term>Noonan Syndrome</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Lymphoedème</term><term>Maladies de la peau</term><term>Maladies foetales</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Lymphoedème</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Disorders</term><term>Female</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Phenotype</term><term>Pregnancy</term><term>Pregnancy Complications</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Complications de la grossesse</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Maladies chromosomiques</term><term>Mâle</term><term>Nouveau-né</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Noonan syndrome is a multiple congenital anomalies syndrome with variable expressivity and autosomal dominant inheritance. We report an observation of a newborn with Noonan syndrome and an unusual molluscoid cutaneous excess over the scalp that might represent a new skin manifestation in Noonan Syndrome rather than a consequence of lymphatic dysplasia.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Aquitaine</li><li>Nouvelle-Aquitaine</li></region><settlement><li>Bordeaux</li></settlement></list><tree><noCountry><name sortKey="Demarquez, J L" sort="Demarquez, J L" uniqKey="Demarquez J" first="J L" last="Demarquez">J L Demarquez</name><name sortKey="Fayon, M" sort="Fayon, M" uniqKey="Fayon M" first="M" last="Fayon">M. Fayon</name><name sortKey="Masson, P" sort="Masson, P" uniqKey="Masson P" first="P" last="Masson">P. Masson</name><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name></noCountry><country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Lacombe, D" sort="Lacombe, D" uniqKey="Lacombe D" first="D" last="Lacombe">D. Lacombe</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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