Presentation
Entire Body System
- 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]
Musculoskeletal
- Myopathy
In one fetal case nemaline myopathy was documented at week 22 of gestation. [ncbi.nlm.nih.gov]
Psychiatrical
- 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]
Neurologic
- 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]
Workup
Other Pathologies
- 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]