Exclusion of allelism and close linkage between neurofibromatosis and multiple cartilaginous exostoses

Short stature and multiple hyperplastic lesions with a potential for malignant degeneration are among the clinical manifestations of both neurofibromatosis I (NF I) and multiple cartilaginous exostoses (MCE). The coexistence of both NF I and MCE in a family provided an opportunity to observe the interaction of these 2 autosomal dominant mutations. Also, the segregation pattern observed in this family excluded allelism and close linkage between the 2 disorders.