A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

Abstract EN

Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia.

The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations.

In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop.

In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.