, Volume 50, Issue 1, pp 65-70

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

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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.