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A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

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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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Fryns, J.P., Moerman, F., Goddeeris, P. et al. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50, 65–70 (1979). https://doi.org/10.1007/BF00295591

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  • DOI: https://doi.org/10.1007/BF00295591

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