Confounding Association of Lower Limb Hypertrophy With Retarded Long Bone Growth in Mosaic Somatic Neurofibromatosis 1-A Genetic Review and Femoral Lengthening Treatment.

Abstract

This presentation describes a 15-year-old adolescent boy with neurofibromatosis type 1 with regional somatic mosaicism in the right half of his body. The unique clinical features are highlighted by generalized hemihypertrophy of the lower extremity in association with progressive growth retardation of long bones, which results in limb shortening. The patient successfully underwent limb lengthening. To our knowledge, this is the first neurofibromatosis type 1 article to report of a limb-lengthening procedure in a patient with two major and opposite growth phenomena on the same limb caused by a 36% gene deletion.