S. Jacquemont et al., Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis,facial and lower limb lymphedema: Confirmation of Njolstad's report, AM J MED G, 93(4), 2000, pp. 264-268
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.