Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion,
multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients
nemaline myopathy could be demonstrated with histology. The ninth patient presented
the same phenotype as his 4 affected siblings in whom the nemaline myopathy could
be histologically proven. Seven of the patients belonged to 2 families; the other
2 patients were isolated cases. In one fetal case nemaline myopathy was documented
at week 22 of gestation. These observations demonstrate that nemaline myopathy can
cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning
of the second trimester of pregnancy.
Nemaline myopathy - Fetal akinesia sequence - Arthrogryposis multiplex congenita -
Peha Shokeir syndrome
