Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia
Identifieur interne : 009123 ( Main/Exploration ); précédent : 009122; suivant : 009124Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia
Auteurs : Carlo Bellini [Italie] ; Massimo Mazzella [Italie] ; Cesare Arioni [Italie] ; Corradino Campisi [Italie] ; Gioconda Taddei [Italie] ; Paolo Tomà [Italie] ; Francesco Boccardo [Italie] ; Raoul C. Hennekam [Pays-Bas] ; Giovanni Serra [Italie]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-07-01.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (diagnostic), Anasarque foeto-placentaire (génétique), Chylothorax (), Chylothorax (diagnostic), Chylothorax (génétique), Enfant d'âge préscolaire, Faciès, Femelle, Humains, Lymphangiectasie (diagnostic), Lymphangiectasie (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Maladies pulmonaires (diagnostic), Maladies pulmonaires (génétique), Malformations multiples (génétique), Noeuds lymphatiques (anatomopathologie), Radiographie thoracique, Syndrome, Tomodensitométrie.
- MESH :
- anatomopathologie : Noeuds lymphatiques.
- diagnostic : Anasarque foeto-placentaire, Chylothorax, Lymphangiectasie, Lymphoedème, Maladies pulmonaires.
- génétique : Anasarque foeto-placentaire, Chylothorax, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Malformations multiples.
- Chylothorax, Enfant d'âge préscolaire, Faciès, Femelle, Humains, Radiographie thoracique, Syndrome, Tomodensitométrie.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Child, Preschool, Chylothorax (congenital), Chylothorax (diagnosis), Chylothorax (genetics), Facies, Female, Humans, Hydrops Fetalis (diagnosis), Hydrops Fetalis (genetics), Lung Diseases (diagnosis), Lung Diseases (genetics), Lymph Nodes (pathology), Lymphangiectasis (diagnosis), Lymphangiectasis (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Radiography, Thoracic, Syndrome, Tomography, X-Ray Computed.
- MESH :
- congenital : Chylothorax.
- diagnosis : Chylothorax, Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Abnormalities, Multiple, Chylothorax, Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- pathology : Lymph Nodes.
- Child, Preschool, Facies, Female, Humans, Radiography, Thoracic, Syndrome, Tomography, X-Ray Computed.
Abstract
We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural‐pulmonary involvement of this generalized lymph vessel malformation syndrome. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.20180
Affiliations:
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Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Largo G. Gaslini, 5, 16147 Genova</wicri:regionArea><wicri:noRegion>16147 Genova</wicri:noRegion></affiliation></author><author><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Arioni, Cesare" sort="Arioni, Cesare" uniqKey="Arioni C" first="Cesare" last="Arioni">Cesare Arioni</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Campisi, Corradino" sort="Campisi, Corradino" uniqKey="Campisi C" first="Corradino" last="Campisi">Corradino Campisi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Chirurgiche Specialistiche Anestesiologiche e Trapianti d'Organi (DISCAT), Università di Genova, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Taddei, Gioconda" sort="Taddei, Gioconda" uniqKey="Taddei G" first="Gioconda" last="Taddei">Gioconda Taddei</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Medicina Interna (DIMI), Università di Genova, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Toma, Paolo" sort="Toma, Paolo" uniqKey="Toma P" first="Paolo" last="Tomà">Paolo Tomà</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Radiologia, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Boccardo, Francesco" sort="Boccardo, Francesco" uniqKey="Boccardo F" first="Francesco" last="Boccardo">Francesco Boccardo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Chirurgiche Specialistiche Anestesiologiche e Trapianti d'Organi (DISCAT), Università di Genova, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C." last="Hennekam">Raoul C. Hennekam</name><affiliation wicri:level="4"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics/Clinical Genetics, Academic Medical Center (AMC), University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genova, Istituto G. 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At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural‐pulmonary involvement of this generalized lymph vessel malformation syndrome. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement><orgName><li>Université d'Amsterdam</li></orgName></list><tree><country name="Italie"><noRegion><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name></noRegion><name sortKey="Arioni, Cesare" sort="Arioni, Cesare" uniqKey="Arioni C" first="Cesare" last="Arioni">Cesare Arioni</name><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name><name sortKey="Boccardo, Francesco" sort="Boccardo, Francesco" uniqKey="Boccardo F" first="Francesco" last="Boccardo">Francesco Boccardo</name><name sortKey="Campisi, Corradino" sort="Campisi, Corradino" uniqKey="Campisi C" first="Corradino" last="Campisi">Corradino Campisi</name><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name><name sortKey="Taddei, Gioconda" sort="Taddei, Gioconda" uniqKey="Taddei G" first="Gioconda" last="Taddei">Gioconda Taddei</name><name sortKey="Toma, Paolo" sort="Toma, Paolo" uniqKey="Toma P" first="Paolo" last="Tomà">Paolo Tomà</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C." last="Hennekam">Raoul C. 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