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

We report on four cases, three familial and one sporadic, with congenital p ulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops feta lis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a cli nical phenotype very similar to that described by Njolstad et al. [1998: Fu r 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 Njol stad et al. describe a new condition very similar to Hennekam syndrome, whi ch is characterized by autosomal recessive inheritance, intestinal lymphang iectasia, lymphedema of the lower limbs and facial anomalies (flat face, hy pertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects), Similarity with our cases and Hennekam syndrome will be discusse d. (C) 2000 Wiley-Liss, Inc.