clinical photographs of autosomal dominant conditions

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.

Anticipation in myotonic dystrophy. (a) A ‘blue-dot’ cataract may be the only sign of the disease in
the first affected generation. (b) A three generation family showing the grandmother who has bilateral
cataracts but no muscle symptoms or facial weakness; her daughter has moderate facial weakness with
ptosis and cataracts; the child has the congenital form. (c) A baby with the congenital form showing
hypotonia. The congenital form is seen only when the child inherits the disease from its mother. It is
caused by very large expansions of the CTG repeat, which are never found in sperm.

Fig. Disease box 5 ©Scion
Publishing Ltd
(a) The QT interval and (b) part of an exercise electrocardiogram showing a long QT interval (535
ms).

Fig. 6.1 ©Scion Publishing Ltd
(b and c) Reproduced from J. Med Genet. 1999; 36: 353 with permission from the BMJ Publishing Group.
(a) A baby with Stickler syndrome; note the small jaw (often associated
with cleft palate) and rather flat face with prominent eyes. (b) Facial
features of a 4-year-old child with Stickler syndrome. © Typical pigmented
paravascular retinal lattice degeneration.

Fig. Disease box 11 ©Scion
Publishing Ltd
Photos courtesy of Dr Paul Durrington.
Cholesterol deposition in patients heterozygous for familial hypercholesterolemia.
(a, b) Tendon xanthomata, and (c) corneal arcus.