A new lethal syndrome with cloudy corneae,diaphragmatic defects and distal limb deformities |
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| Authors: | J P Fryns F Moerman P Goddeeris C Bossuyt H Van den Berghe |
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| Institution: | (1) Department of Human Biology, Division of Human Genetics, Minderbroedersstraat, 12, B-3000, Leuven, Belgium;(2) Department of Pathology, University of Leuven, Minderbroedersstraat, 12, B-3000 Leuven, Belgium;(3) Paediatrician, B-9620 Zottegem, Belgium |
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| Abstract: | Summary Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities. |
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