PMID: 11332983May 3, 2001Paper

Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence

Genetic Counseling
Ingrid WittersJ P Fryns

Abstract

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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