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.
D002648:Child; D005260:Female; D006801:Humans; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D011625:Pterygium / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013577:Syndrome