RESUMEN
Skeletal muscle was studied from two male fetuses with Duchenne's muscular dystrophy (DMD) that were at 17 and 23 weeks' gestational age, respectively. In comparison with the ultrastructure of normal fetal muscle, a spectrum of changes could be seen, from normal-appearing to very degenerated fibers. The changes followed an apparent progression from early actin filament disruption and fraying of the Z bands to progressive disorganization of myofibrillar alignment, increasing vacuolization, and condensation of fibers. Significant plasma membrane defects were not found. These findings are similar to those described in older persons with DMD and confirm that DMD is a congenital disorder associated with consistent skeletal muscle changes in utero.
Asunto(s)
Músculos/ultraestructura , Distrofias Musculares/patología , Femenino , Feto/patología , Humanos , Recién Nacido , Masculino , Distrofias Musculares/genética , Linaje , EmbarazoRESUMEN
Two unrelated children were born with severe congenital malformations: a girl now seven years old and a boy who died in the newborn period. Both had severe cervical hyperextension, severe flexion deformities of the limbs, and bilateral popliteal pterygia. Postmortem examination of the second case showed small, well-formed thoracic vertebrae with mild epidural fibrosis and hemorrhage. These births defects are rare and usually occur separately. We postulate that they are related in these two cases; that the arthrogryposis and popliteal pterygia were probably the result of the spondylohypoplasia and associated changes; and that together, these related defects may constitute a new malformation complex.