Facial appearance in persistent XXXX @entity4053 .

@entity1 @entity11773 @entity154 @entity14225 @entity6 @entity660 @entity11123 @entity4053 @entity600 @entity1717 @entity3190 @entity29521 @entity1412 @entity3263
Persistent @entity3190 is the most common cause of recurrent @entity4053 in infancy because of inappropriate oversecretion of insulin by the pancreas. @entity660 can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated @entity1 presenting with neonatal (n = 8) or infancy-onset (n = 9) @entity3190 . @entity3190 was related to focal @entity1412 (n = 7), diffuse @entity3190 (n = 5), non-operated @entity3190 (n = 2), and @entity3190 with @entity3263 (n = 3). @entity11773 or @entity14225 mutations were found in six of seven focal @entity1412 and three of five diffuse @entity3190 . A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal @entity1412 . @entity29521 mutations were found in all @entity1 with @entity3263 . Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and @entity11123 could always be ruled out. All @entity1 presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger @entity1 . These specific facial features, observed in @entity1 with @entity3190 of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, @entity154 have not been noted in @entity1 of @entity6 mothers and inversely, @entity600 that are commonly reported in @entity1 of @entity6 mothers were not present in our @entity1717 @entity1 .
