Carpenter syndrome with coarctation of aorta-a case report with review of literature

Abstract

Carpenter syndrome (Acrocephalopolysyndactyly Type II) is a rare autosomal recessive syndrome characterized by acrocephaly, facial dysmorphism and polysyndactyly. There is marked phenotypic variability noted in this syndrome. Congenital heart disease is seen in only 33% of affected patients. We report an autopsy case of 20-week-old fetus with craniosynostosis, polysyndactyly and congenital heart defect with common atrium, aortic valve stenosis and wide patent ductus arteriosus with preductal coarctation of aorta. The cardiovascular anomalies in this 20-week-old fetus merit emphasis; since these anomalies in such a young fetus may explain early fatality seen in Carpenter syndrome. Limited insight in to the anomalies associated with this syndrome exists. Autopsy study in such fetus with congenital anomalies may help in adding information about the pathological findings which have not been previously described with this syndrome and is essential for genetic counseling. We present this interesting case because of its extreme rarity.