Patient selection: female with Rett syndrome
The variant phenotype shows a spectrum of findings that may range from mild to severe.
Features of the classic syndrome with a high frequency in the variant syndrome:
(1) regression followed by recovery or stabilization, may be less severe than classic
(2) hand stereotypes and loss of purposeful hand skills
Features of the classic syndrome seen in many patients with the variant syndrome:
(1) gait abnormalities
(2) irregular breathing
(3) hypotonia
Features of the classic syndrome seen in some patients with the variant syndrome:
(1) seizures
Features of the classic syndrome not seen in the variant syndrome:
(1) cold extremities
(2) absence of speech and/or high-pitched crying
(3) deceleration of head growth
Features of the variant syndrome not seen in the classic syndrome:
(1) agitation
