[MIM 193 520]

Very rare. Allelic variant of neurofibromatosis type I (NF1 gene on 17q11.2) that combines:

-        cafe au lait spots,

-        pulmonary valvular stenosis

-        mental retardation

-        short stature.

Macrocephaly and Lisch iridial nodules (coloured iridial hamartoma detectable to slit lamp examination, in 85-90% of the children over the age of 10 years) are frequently found, and 30% of patients present with neurofibromas.

Anesthetic implications:

pulmonary stenosis

References : 

Updated: August 2018