Familial congenital pulmonary lymphangectasia, non‐immune hydrops fetalis, facial and lower limb lymphedema: Confirmation of Njolstad's report
Identifieur interne : 00A699 ( Main/Exploration ); précédent : 00A698; suivant : 00A700Familial congenital pulmonary lymphangectasia, non‐immune hydrops fetalis, facial and lower limb lymphedema: Confirmation of Njolstad's report
Auteurs : Sébastien Jacquemont [France] ; Sébastien Barbarot [France] ; Michelle Bocéno [France] ; Jean François Stalder [France] ; Albert David [France]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2000-08-14.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Anasarque foeto-placentaire, Lymphangiectasie, Lymphoedème, Maladies pulmonaires.
- malformations : Face.
- Pascal (Inist)
- Anasarque foetoplacentaire, Congénital, Diagnostic, Diagnostic différentiel, Enfant, Enfant d'âge préscolaire, Etude cas, Etude familiale, Face, Femelle, Gènes récessifs, Humains, Lymphangiectasie, Lymphoedème, Membre inférieur, Nourrisson, Nouveau syndrome, Phénotype, Poumon, Revue bibliographique.
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Bibliographic review, Case study, Child, Child, Preschool, Congenital, Diagnosis, Differential diagnostic, Face, Face (abnormalities), Family study, Female, Genes, Recessive, Humans, Hydrops Fetalis (genetics), Hydrops fetalis, Infant, Lower limb, Lung, Lung Diseases (genetics), Lymphangiectasis, Lymphangiectasis (genetics), Lymphedema, Lymphedema (genetics), New syndrome, Phenotype.
- MESH :
- abnormalities : Face.
- genetics : Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- Child, Child, Preschool, Female, Genes, Recessive, Humans, Infant.
Abstract
We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498–501], who reported three sibs with non‐immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed. Am. J. Med. Genet. 93:264–268, 2000. © 2000 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/1096-8628(20000814)93:4<264::AID-AJMG2>3.0.CO;2-5
Affiliations:
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Le document en format XML
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to="268">268</biblScope><biblScope unit="page-count">5</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-08-14">2000-08-14</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>Bibliographic review</term><term>Case study</term><term>Child</term><term>Child, Preschool</term><term>Congenital</term><term>Diagnosis</term><term>Differential diagnostic</term><term>Face</term><term>Face (abnormalities)</term><term>Family study</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Hydrops Fetalis (genetics)</term><term>Hydrops fetalis</term><term>Infant</term><term>Lower limb</term><term>Lung</term><term>Lung Diseases (genetics)</term><term>Lymphangiectasis</term><term>Lymphangiectasis 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xml:lang="fr"><term>Enfant</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498–501], who reported three sibs with non‐immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed. Am. J. Med. Genet. 93:264–268, 2000. © 2000 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Pays de la Loire</li></region><settlement><li>Nantes</li></settlement></list><tree><country name="France"><region name="Pays de la Loire"><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name></region><name sortKey="Barbarot, Sebastien" sort="Barbarot, Sebastien" uniqKey="Barbarot S" first="Sébastien" last="Barbarot">Sébastien Barbarot</name><name sortKey="Boceno, Michelle" sort="Boceno, Michelle" uniqKey="Boceno M" first="Michelle" last="Bocéno">Michelle Bocéno</name><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name><name sortKey="Stalder, Jean Francois" sort="Stalder, Jean Francois" uniqKey="Stalder J" first="Jean François" last="Stalder">Jean François Stalder</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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