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Clinical photographs of autosomal
dominant conditions
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Fig. 1.1 ©Scion
Publishing Ltd
Photos courtesy of (a) Prof. Peter Harper and (b) Dr David Crauford.
Huntington disease. A patient in the advanced stages of the disease showing
involuntary movements of the head and face. Photos courtesy of Professor Peter
Harper, Cardiff. (b) Post mortem sections comparing normal brain (left) with brain
from Huntington disease patient (right); note the loss of tissue in the Huntington
disease brain. Photos courtesy of Dr David Crauford, St Mary’s Hospital,
Manchester.
Fig. Disease box 1 ©Scion
Publishing Ltd
Neurofibromatosis type 1.
a) Café-au-lait skin macules b) & c) dermal neurofibromatosis
Fig. 3.2 ©Scion Publishing
Ltd
Marfan syndrome. (a) Arachnodactyly (long fingers). (b ) Dislocated lens.
Fig. Disease box 4 ©Scion
Publishing Ltd
Photo. (b) reproduced courtesy of Prof. Peter Harper and gel photo. courtesy of Dr Simon Ramsden.