Clinical Photos - Autosomal Dominant conditions

Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre
Clinical photographs of
autosomal dominant conditions
This PowerPoint file contains a number of slides that may be useful for your teaching
of genetics concepts.
You may use these slides and their contents for non-commercial educational purposes.

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

Marfan syndrome
(a) Arachnodactyly (long fingers). (b ) Dislocated lens.

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.

(a) The QT interval and (b) part of an exercise electrocardiogram showing a long QT interval (535 ms).

(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.
(c) Typical pigmented paravascular retinal lattice degeneration.

Photos courtesy of Dr Paul Durrington
Cholesterol deposition in patients heterozygous for familial
hypercholesterolemia
(a, b) Tendon xanthomata, and (c) corneal arcus.

Clinical Photos - Autosomal Dominant conditions

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