Denouement and Discussion
Hypertelorism and a tumor in the nasofrontal region, sometimes associated with abnormal skin covering, are the hallmarks of this condition. Unilateral or bilateral optic hypoplasia, microcephaly, hydrocephalus, and mental retardation are frequent findings. Exposed cerebral tissue or fluid leakage and seizures are occasionally present. Roentgenograms show widening of the orbits and may show a bony defect in the glabellar region. Special angle views or tomography may be required to demonstrate the defect, which on exploration lies just anterior to the crista galli. Frontoethmoidal meningoencephaloceles (FEMs) range in severity of presentation from a mild cosmetic defect to a severe central nervous system malformation incompatible with life.
Genetic factors appear to play a role in the occurrence of FEM, as the defect is frequently found in close relatives of the patient. Multifactorial inheritance is the best possible explanationThe geogrphic distribution of this lesion is
Gellis SS, Feingold M, Nelson KB, Nelson KE, Srisukri A. Picture of the Month. Am J Dis Child. 1976;130(2):193–194. doi:10.1001/archpedi.1976.02120030083015
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: