Principal sources and further reading R. J. Gorlin 1990 Syndromes of the Head and Neck, 3 Edn, OUP.
Syndromes of the head and neck
The aim of this section is neither to bemuse the reader nor to demonstrate esoteric knowledge, although both may appear to occur. The real importance behind the learning of names associated with conditions which may be of relevance to, or be picked up by, clinical examination of the head and neck, is that, once learned, some difficult diagnostic problems can be quickly solved and appropriate Rx instituted. We have retained eponyms where relevant (although this is not in keeping with current fashion) as they are, we feel, easier to learn and certainly more fun. Examiners have a tendency to remember their favourite eponymous syndrome and it helps to at least agree on the name. We have, however, avoided the use of the possessive when using eponyms because invariably others were involved in describing or elucidating the condition and the syndrome does not belong to the individual(s) associated with it. The following list is in no way comprehensive but takes you through conditions met by the authors either in their clinical practice or in examinations, and which could therefore be considered worth knowing about.
A primary structural defect resulting from a localized error of morphogenesis.
A malformation and its subsequently derived structural changes.
A recognized pattern of malformation, presumed to have the same aetiology but not interpreted as the result of a single localized error in morphogenesis.
A recognized pattern of malformation not considered to be a syndrome or an anomalad, at the present time.
Consists of polyostotic fibrous dysplasia (multiple bones affected), patchy skin pigmentation (referred to as café-au-lait spots), and an endocrine asbnormality (usually precocious puberty in girls). Facial asymmetry affects up to 25% of cases.
is a rare developmental deformity consisting of a cranio synostosis (premature fusion of/>