Article
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
American journal of medical genetics. Part A - 1 May 2014
Valdez Carolina M, Altmayer Stephan P L, Barrow McArthur A, Telles Jorge A B, Betat Rosilene da S, Zen Paulo R G, Rosa Rafael F M
Abstract excerpt
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] and Kunze...
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