Case Reports
doi: 10.1007/BF00295591.
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
- PMID: 381161
- DOI: 10.1007/BF00295591
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Case Reports
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
Hum Genet.
1979.
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.
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