Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block

Kirby et al. (2005) described 3 nondysmorphic sibs from a consanguineous Pakistani family who had severe mental retardation, keratoconus resulting in significant vision failure, and febrile seizures throughout the first few years of life. Two of the sibs developed sinoatrial heart block, 1 of whom required insertion of a cardiac pacemaker. Kirby et al. (2005) concluded that this combination of features likely constituted a previously unrecognized syndrome inherited as an autosomal recessive trait.