| Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report. | |
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MedLine Citation:
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PMID: 10946350 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Jacquemont; S Barbarot; M Bocéno; J F Stalder; A David |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 93 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Aug |
Date Detail:
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Created Date: 2000-11-08 Completed Date: 2001-05-24 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 264-8 Citation Subset: IM |
Affiliation:
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Service de Génétique Médicale Hôpital Mère Enfant, Nantes, France. acseb@infonie.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Face / abnormalities Female Genes, Recessive Humans Hydrops Fetalis / genetics* Infant Lung Diseases / genetics* Lymphangiectasis / genetics* Lymphedema / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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