Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.
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Based on 77 observations including telorbitism, craniofacial stenosis (C.F.S.), and plagiocephalies, oculo-motor disorders involving horizontal and vertical imbalance occur very frequently. Abnormalities in the transverse plane (telorbitisms, craniofacial stenoses) give orbital divergence and exotropia. Orbital extorsion with a significant antimongoloid palpebral fissure, may be the cause of rectus muscle extorsion. Abnormalities in the vertical plane (plagiocephalies) induce hypertropia. Abnormalities in the sagittal plane (C.F.S.) lead to exotropia with exorbitism, the V syndrome with double up-shoot. These oculo-motor disorders seem to be the consequence of these orbital structure abnormalities, sometimes combined with sensory factors.
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A facial malformation was diagnosed by ultrasonography, the case correspond to First Arch syndrome, the findings are micrognathia, polyhydramnios, low-set ears and absence of stomach bubble. The heterogeneity of this syndrome and his relationship with environmental agents is analyzed.
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