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 CASE REPORT
Year : 2004  |  Volume : 52  |  Issue : 2  |  Page : 254--256

Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases


1 Departments of Pathology, All India Institute of Medical Sciences, New Delhi, India
2 Departments of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Chitra Sarkar
Professor of Pathology, Department of Pathology, All India Institute of Medical Sciences, New Delhi - 110029
India
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Source of Support: None, Conflict of Interest: None


PMID: 15269486

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Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male child. Although rare, it should be considered in the differential diagnosis of childhood muscle diseases. Histochemical staining is necessary for the diagnosis of this entity.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow