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- W2064022022 abstract "We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome (whistling face), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. (Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): Neuropediatrics 19:186-192), where calcium deposits were found in the nervous system and skeletal muscle. The presence of severe to profound developmental retardation in the present 3 patients is equally in favour of a central nervous system abnormality as the pathogenetic basis of the fetal hypokinesia sequence with secondary facial changes and distal arthrogryposis." @default.
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- W2064022022 date "1991-03-15" @default.
- W2064022022 modified "2023-09-23" @default.
- W2064022022 title "Association of distal arthrogryposis, mental retardation, whistling face, and pierre robin sequence: Evidence for nosologic heterogeneity" @default.
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- W2064022022 doi "https://doi.org/10.1002/ajmg.1320380412" @default.
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