clinical photos - autosomal dominant conditions

Genetics and Genomics for Healthcarewww.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 LtdPhotos 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 1a) 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 LtdPhoto. (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. (c) Typical pigmented paravascular retinal lattice degeneration.



Fig. Disease box 11 ©Scion Publishing LtdPhotos 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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