SPONDYLOCOSTAL DYSPLASIA AND CARDIAC ANOMALIES IN ONE DIZYGOTIC TWIN

A 13-day-old, preterm, male infant was referred for respiratory distre ss syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical featu res of spondylocostal dysplasia. Ventricular septal defect (VSD) and p atent ductus arteriosus (PDA) were also diagnosed by echocardiographic evaluation. Parental consanguinity was not reported. There were no ot her similar cases in the family, and his twin sister and five-year-old living sister were free of deformities. Therefore, autosomal-recessiv e transmission may be considered first; however, because the patient w as the only affected individual in this family, second denovo autosoma l-dominant mutation should also be considered. This is the first repor ted case of spondylocostal dysplasia with VSD and PDA to our knowledge .