Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects.
We report a fetus with severe mandibulofacial dysostosis (MFD), postaxial hand defects, talipes equinovarus and extensive vertebral segmentation defects. This constellation may represent a distinct postaxial acrofacial dysostosis syndrome.
Medeira
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Regional Genetics Service, St Mary's Hospital, Manchester, UK.
Donnai
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D000015:Abnormalities, Multiple / Q000196:embryology* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005333:Fetus / Q000002:abnormalities*; D006225:Hand / Q000196:embryology; D006801:Humans; D007621:Karyotyping; D008297:Male; D013131:Spine / Q000002:abnormalities*