A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
- 1 August 1979
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 50 (1) , 65-70
- https://doi.org/10.1007/bf00295591
Abstract
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.Keywords
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