Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly

Abstract

We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.