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.
