Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report
Détails
ID Serval
serval:BIB_E9442A954EE1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report
Périodique
American Journal of Medical Genetics
ISSN
0148-7299
Statut éditorial
Publié
Date de publication
08/2000
Peer-reviewed
Oui
Volume
93
Numéro
4
Pages
264-8
Notes
Case Reports
Journal Article --- Old month value: Aug 14
Journal Article --- Old month value: Aug 14
Résumé
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.
Mots-clé
Child
Child, Preschool
Face/abnormalities
Female
Genes, Recessive
Humans
Hydrops Fetalis/*genetics
Infant
Lung Diseases/*genetics
Lymphangiectasis/*genetics
Lymphedema/*genetics
Pubmed
Web of science
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 17:11