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EFFECTS Patients 1 and 2 passed away after couple of hours and 1 month of birth, correspondingly, due to respiratory failure related to the condition. CONCLUSION We report two customers impacted by short-rib polydactyly syndrome and overlapping phenotype with oral-facial-digital syndrome associated with the c.1815GA variation in KIAA0586, recommending a quite particular genotype-phenotype correlation.To verify the validity of functional wellness