1Department of Anatomy, MGIMS, Sevagram, India.
2Department of Orthopedics, MGIMS, Sevagram, India.
3Department of Biochemistry, MGIMS, Sevagram, India
4Department of Radiology, MGIMS, Sevagram, India.
5Department of Anatomy, MGIMS, Sevagram, India.
*Correspondence to: A.K. PAL, Department of Anatomy, Mahatma Gandhi Institute of Medical sciences, Sevagram 442102, Wardha (Maharashtra), India, Phone: +91-7152- 284341 to 284355, (extension 261) Mobile:09822882766. E-mail: asokepal@yahoo.com Alt. drjewaghmare@gmail.com
Neurofibromatosis is a autosomally dominant disorder. It has been classified as Neurofi-bromatosis 1 and Neurofibromatosis 2. Neurofibromatosis 1 is caused due to the mutation in the NF1 gene which is located in the pericentromeric region of the chromosome 17. Expression of the Neurofibromatosis 1 might range from subcutaneous nodules of neurofibromas to skeletal deformities. We are reporting a family with variable expression of Neurofibroma-tosis 1. The Index case is showing skeletal deformities. Father of the index case have multiple subcutaneous nodules of neurofibrobas all over the body, his elder brother is affected with plexifprm neurofibroma on the face and the younger sister is mildly affected and showing only few of the subcutaneous nodules on the limbs.
Neurofibromatosis, Neurofibroma, Chromosome, Gene
