Clinical profile of a male with Rett syndrome.

Abstract excerpt

We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he...

Topics

• Child
• Humans
• Male
• Methyl-CpG-Binding Protein 2
• Mutation
• Rett Syndrome
• Sex Chromosome Aberrations