Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.
Identifieur interne : 004A16 ( PubMed/Corpus ); précédent : 004A15; suivant : 004A17Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.
Auteurs : S. Jacquemont ; S. Barbarot ; M. Bocéno ; J F Stalder ; A. DavidSource :
- American journal of medical genetics [ 0148-7299 ] ; 2000.
English descriptors
- KwdEn :
- 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.
PubMed: 10946350
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pubmed:10946350Le document en format XML
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David</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:10946350</idno><idno type="pmid">10946350</idno><idno type="wicri:Area/PubMed/Corpus">004A16</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004A16</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.</title><author><name sortKey="Jacquemont, S" sort="Jacquemont, S" uniqKey="Jacquemont S" first="S" last="Jacquemont">S. Jacquemont</name><affiliation><nlm:affiliation>Service de Génétique Médicale Hôpital Mère Enfant, Nantes, France. acseb@infonie.fr</nlm:affiliation></affiliation></author><author><name sortKey="Barbarot, S" sort="Barbarot, S" uniqKey="Barbarot S" first="S" last="Barbarot">S. Barbarot</name></author><author><name sortKey="Boceno, M" sort="Boceno, M" uniqKey="Boceno M" first="M" last="Bocéno">M. Bocéno</name></author><author><name sortKey="Stalder, J F" sort="Stalder, J F" uniqKey="Stalder J" first="J F" last="Stalder">J F Stalder</name></author><author><name sortKey="David, A" sort="David, A" uniqKey="David A" first="A" last="David">A. David</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Face (abnormalities)</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Hydrops Fetalis (genetics)</term><term>Infant</term><term>Lung Diseases (genetics)</term><term>Lymphangiectasis (genetics)</term><term>Lymphedema (genetics)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Face</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hydrops Fetalis</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Infant</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10946350</PMID><DateCreated><Year>2000</Year><Month>11</Month><Day>08</Day></DateCreated><DateCompleted><Year>2001</Year><Month>05</Month><Day>24</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>93</Volume><Issue>4</Issue><PubDate><Year>2000</Year><Month>Aug</Month><Day>14</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.</ArticleTitle><Pagination><MedlinePgn>264-8</MedlinePgn></Pagination><Abstract><AbstractText>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). 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