Vertical transmission of the neurofibromatosis/Noonan syndrome

Abstract

We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café-au-lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome. The presence of neurofibromatosis associated with Noonan syndrome manifestations in our related patients suggests presence of a unique disorder sharing characteristics of both conditions.

Neurofibromatosis with fully expressed Noonan syndrome

“…The family reported in this paper provides evidence against this explanation, since NS is fully expressed in the son. Vertical transmission of NF with NS features had been previously reported in only two other families [Quattrin et al, 1987;Meinecke, 19871. Although some characteristics of the NS were present in some of the patients, none of them showed full expression of NS.…”

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

“…Indeed, most cases appear as sporadic instances and are not conducive to the familial inquiry necessary for eliciting modifying genes. It is difficult to draw definite conclusions from different families described as segregating NF-NS [Quattrin et al, 1987;Meinecke, 1987;Abuelo and Meryash, 1988;Stern et al, 1992]. However, it seems 1) that overlap with NS is always more outstanding in children, and 2) that these families, regardless of patients' ages, do exhibit clustering of malformative symptoms or facial anomalies.…”

Cutaneous findings related to cardiovascular disorders

“…Vascular changes, including congenital left atrial wall aneurysm, have been associated with neurofibromatosis, with morphologic alterations of arteries and the presence of heart murmur. 35,36…”