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. [ncbi.nlm.nih.gov]

• Coarctation of the Aorta

  In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. [ncbi.nlm.nih.gov]

• Myopathy

  In one fetal case nemaline myopathy was documented at week 22 of gestation. [ncbi.nlm.nih.gov]

• Suggestibility

  We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. [ncbi.nlm.nih.gov]

• Akinesia

  We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. [ncbi.nlm.nih.gov]

• Gliosis

  The brain showed focal cerebral and diffuse cerebellar white matter gliosis, and patchy loss of internal granular and Purkinje cells in the cerebellar cortex. The spinal cord was normal. [ncbi.nlm.nih.gov]