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.
Abstract
Short rib-polydactyly syndrome (SRPS) is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage [Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol. 1971;112:185–97]. In this case, we describe a neonate born with Type I SRPS (Saldino-Noonan type). Prenatal ultrasounds were suspicious for skeletal dysplasia, but prenatal genetic testing was negative. Postnatally, the infant was found to have severely hypoplastic lungs, a large patent ductus arteriosus, hydrops fetalis, polydactyly and a saddle nose. Postnatal DNA sequencing confirmed the diagnosis of SRPS and revealed a compound heterogeneous mutation in a gene involved in primary cilia synthesis. Ultimately, the infant was withdrawn from life support at 7 days due to severe respiratory decompensation from the lung hypoplasia.
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome