A case of Seckel syndrome with Tetralogy of Fallot.Genet Couns. 2010; 21(1):49-51.GC
Seckel syndrome, also known as Harper's Syndrome and Virchow-Seckel-Syndrome, was first described by Seckel in 1960, and is a rare (<1:10,000 live births) autosomal recessive trait. The syndrome (OMIM 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable mental retardation, facial anomalies and skeletal abnormalities. Cardiac anomalies have been described in only five case. We report a male newborn with typical findings of Seckel sydrome associated with Tetrology of Fallot. This is the first case reported in concomitance with Tetralogy of Fallot, and might be a new finding of the syndrome. We would like to emphasize that clinicians should perform diagnostic interventions for congenital cardiac defects in Seckel Syndrome.