| CASE REPORT |
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| Year : 2004 | Volume
: 52
| Issue : 2 | Page : 254--256 |
Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases
MC Sharma1, AM Ralte1, SK Atri1, S Gulati2, V Kalra2, Chitra Sarkar1
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
PMID: 15269486
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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