Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report

Details

Serval ID
serval:BIB_E9442A954EE1
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report
Journal
American Journal of Medical Genetics
Author(s)
Jacquemont  S., Barbarot  S., Boceno  M., Stalder  J. F., David  A.
ISSN
0148-7299
Publication state
Published
Issued date
08/2000
Peer-reviewed
Oui
Volume
93
Number
4
Pages
264-8
Notes
Case Reports
Journal Article --- Old month value: Aug 14
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.
Keywords
Child Child, Preschool Face/abnormalities Female Genes, Recessive Humans Hydrops Fetalis/*genetics Infant Lung Diseases/*genetics Lymphangiectasis/*genetics Lymphedema/*genetics
Pubmed
Web of science
Create date
28/02/2008 10:42
Last modification date
20/08/2019 16:11
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