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This video has been produced as a training aid for ophthalmologists, ophthalmic nurses, orthoptists, genetic counsellors, and nurses. The commentary and content of the video are the work of Mette Warburg, a respected Danish geneticist who has published extensively in the field of ophthalmic genetics. The aim is to outline a system for examination of the face and eyes of patients where a syndromic diagnosis is a possibility. She explains that the video does not describe the embryology or aetiology of the conditions nor the intraocular signs unless they form an important part of the syndrome.
The introduction details the frequency of congenital eye anomalies in dysmorphic syndromes before going through an approach to examination, starting with observation of the child's eye contact and use of vision. She then goes on to discuss examination of the face followed by the ears, neck, and hands. Possible findings are illustrated in turn, using both well recognised and rare conditions. The length of the video (40 minutes) means that only brief details can be given about each case and there are a few technical inaccuracies in the commentary which may have resulted during translation. The video has been shot as a series of still pictures and although this results in the loss of some information, especially when discussing observation of children's behaviour, the unusual nature of some of the conditions indicates that they have been collected over a period of time, making it difficult to produce the video in any other way.
From a training point of view, the video illustrates an interesting set of dysmorphology cases linked to a system for examination. Most of the cases will be familiar to doctors training in clinical genetics and so the video will probably be most useful to ophthalmologists interested in dysmorphology, who wish to familiarise themselves with some syndromic diagnoses and signs to look for in a general examination.
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