XXXX (Hennekam) syndrome: a review.

@entity1 @entity154 @entity8 @entity1032 @entity410 @entity2652 @entity4269 @entity245 @entity726 @entity393 @entity4500 @entity9676 @entity4366 @entity5766 @entity13171
The @entity4366 is an infrequently reported heritable entity characterized by @entity4269 , @entity9676 , and @entity245 . Here we add an additional 8 @entity1 , and compare their findings to the 16 cases from the literature. The @entity4269 is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as @entity13171 are common. The @entity9676 are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several @entity1 have demonstrated @entity154 , pointing to a disturbance of angiogenesis in at least some of the @entity1 . Facial features are variable, and are chiefly characterized, in a typical @entity1 , by a flat face, flat and broad nasal bridge, and @entity5766 . Facial features are thought to mirror the extent of intrauterine @entity2652 , or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. @entity154 have included @entity726 , @entity4500 , @entity393 , and @entity8 . The psychomotor development varies widely, even within a single family, from almost normal development to severe @entity1032 . @entity410 are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.
