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Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.

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Introduction Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was first described by Austrian physician Andreas Rett in 1966 (Rett, 1966). After a brief… Click to show full abstract

Introduction Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was first described by Austrian physician Andreas Rett in 1966 (Rett, 1966). After a brief period of normal development, patients experience loss of acquired purposeful hand movements, loss of acquired speech, gait abnormalities and stereotypic hand movements. In addition, deceleration of head growth, seizures, sleep disturbances and autistic features are often observed (Neul et al., 2010).

Keywords: congenital variant; mild presentation; presentation congenital; rett; variant rett; rett syndrome

Journal Title: Clinical Dysmorphology
Year Published: 2019

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