A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003318:Corneal Opacity / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities*; D005145:Face; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D006831:Polyhydramnios; D011247:Pregnancy; D013577:Syndrome