Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report first trimester cystic hygroma colli with subsequent resolution and development of a fetal akinesia deformation sequence. Neuropathological examination of the brain showed intra- and extracellular white matter edema while spinal cord, peripheral nerves and muscles were normal. Hygroma colli as the first echographic sign of subsequent severe fetal akinesia sequence without muscular dystrophy as seen in the Lethal Multiple Pterygium syndrome has not been previously reported.
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PMID:Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. 1133 83