Progressive form of multiple pterygium syndrome in association with nemalin-myopathy: report of a female followed for twelve years.

We report on a girl with progressive multiple pterygium syndrome in association with gluteal muscle fibrosis and nemalin-myopathy. This girl has been followed for 12 years. Clinical findings, natural history, and the presence of nemalin myopathy suggest the possibility of a distinct form of multiple pterygium syndrome in this patient.