A case of a four - day - old male with carpenter's syndrome with transposition of great arteries

Abstract

Carpenter's syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome characterized by peculiar facies, synbrachydactyly on fingers and preaxial polysyndactyly on feet. To our knowledge there are about 40 reported cases of Carpenter's syndrome in the literature. Congenital heart disease is an uncommon entity in Carpenter's syndrome. In the case we present, transposition of great arteries, subpulmonic ventricular septal defect (VSD) and secundum atrial septal defect (ASD) were diagnosed with echocardiographic examination. Therefore, a cardiologic examination should be done in every newly diagnosed case of Carpenter's syndrome for possible heart defect. Early fatality is seen in Carpenter's syndrome cases associated with congenital heart disease. This is particularly important from the genetic counselling point of view.