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

Abstract

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.

• Authors: Nihat Demir, Erdal Peker, İbrahim Ece, Sultan Kaba, Kemal Ağengin, Oğuz Tuncer
• Journal: Case reports in pulmonology (Case Rep Pulmonol) Vol. 2015 Pg. 274639 ( 2015) ISSN: 2090-6846 [Print] United States
• PMID: 26078906 (Publication Type: Journal Article)