A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.
We report on a girl aged 7 years with normal mental development but an unusual form of mandibulofacial dysostosis. The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia, retrognathism with reduced height of the mandible, and irregularly placed teeth, some to them missing.
Verloes
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Centre for Human Genetics, Liège University, CHU Sart Tilman, Belgium.
Lesenfants
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D000015:Abnormalities, Multiple; D002648:Child; D005143:Eyelids / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006801:Humans; D008265:Macrostomia / Q000150:complications*; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000473:pathology*