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Salivary gland pathology as a new finding in Treacher Collins syndrome


  • How to Cite this Article: Østerhus IN, Skogedal N, Akre H, Johnsen ULH, Nordgarden H, Åsten P. 2012. Salivary gland pathology as a new finding in Treacher Collins syndrome. Am J Med Genet Part A. 158A:1320–1325.

  • None of the authors have any financial or other relationship that might lead to a conflict of interest.


In our clinical experience, individuals with Treacher Collins syndrome (TCS) present with more complaints of oral dryness and higher caries activity than seen in the general population. A literature review identified no reports of salivary gland pathology and glandular dysfunction associated with TCS. Twenty-one Norwegian individuals with TCS underwent ultrasound examinations and salivary secretion tests of the submandibular and parotid glands. Intraglandular architecture patterns were analyzed and subsequently classified as either normal, dysplastic, or aplastic. The results were compared with salivary secretion rates and subjective reports of oral dryness. Ultrasound examination revealed pathological appearance of the salivary glands in approximately half (48%) of the individuals, with dysplasia identified in six (29%) participants and aplasia in four (19%). Almost all participants had co-existing low salivary secretion rates. A few individuals had low salivary secretion rates despite normal appearance of the salivary gland tissue on ultrasound examination. Subjective experience of oral dryness did not correlate significantly with low salivary secretion rates. We conclude that mild to severe salivary gland pathology and dysfunction can be associated with TCS. Further investigation is needed to clarify this association. © 2012 Wiley Periodicals, Inc.