Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association

Abstract

Chetan Kumar,1 Deepak Sharma,2 Aakash Pandita,2 Sanjay Bhalerao1 1Department of Pediatrics, Madras Institute of Orthopedic and Trauma, Manapakkam, Chennai, India; 2Department of Neonatology, Fernandez Hospital, Hyderabad, India Abstract: Thrombocytopenia absent radius (TAR) syndrome is a very rare and infrequently seen congenital disorder with an approximate frequency of 0.42/100,000 live births. It is associated with bilateral absence of radii, hypo-megakaryocytic thrombocytopenia, and presence of both thumbs. The other systems which are affected by TAR syndrome include skeletal, hematologic, and cardiac systems. Intracranial hemorrhages due to thrombocytopenia and cardiac disorders are a common association usually seen with this syndrome and are usual cause of death. We describe a 3-month-old infant who was diagnosed with TAR syndrome on the basis of clinical features (thrombocytopenia and bilateral absent radius bone and confirmed by genetic analysis). The patient was diagnosed to have Tetralogy of Fallot, for which the infant was managed with definitive repair and thrombocytopenia was managed with platelet transfusion. Infants with TAR syndrome should be assessed for other associated malformations of various systems and followed up regularly and parents should be counseled for associated expected complications in these patients. We report an infant with TAR syndrome with Tetralogy of Fallot, which has not been reported in medical literature until now and this is the first case of its type. Keywords: thrombocytopenia absent radius syndrome, Tetralogy of Fallot, microdeletion 1q21.1, RBM8A