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Head and neck manifestations of 22q11.2 deletion syndromes

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Abstract

The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives (“22q11.2 deletion syndromes”, 22q.11DS), consequently affecting the anatomy and physiology of head and neck (H&N) organs. The objective of this paper was to describe those manifestations. Two 22q11.2DS patients with H&N manifestations were studied along with a comprehensive review of the English literature, from 1975 to 2010 regarding the associated H&N malformations among 22q11.2DS. A 24-year-old mentally disabled 22q11.2DS male presented with right hemithyroid enlargement, causing significant compressive signs. Sonography revealed a homogeneous 8 × 3 cm lesion, replacing almost the entire thyroid lobe. Fine needle aspiration revealed colloid material and abundant eosinophils. The hemithyroidectomy specimen confirmed follicular adenoma. A 19-year-old mentally disabled 22q11.2DS female underwent CT-angiography due to an upper GI bleeding. The study revealed a vascular malformation in the infratemporal fossa. Reviewing the reported data regarding 22q11.2DS-associated H&N malformations revealed abnormalities and malfunctions of the thyroid gland, parathyroid glands, thymus agenesis, cleft palate, carotid artery aberrations, malformations of the larynx and trachea and esophageal dysmotility. 22q11.DS patients may present with H&N anatomical abnormalities, along with hormonal dysfunctions, which require special awareness once treatment is offered, especially when concerning anesthetic and surgical aspects. In addition, hSNF5/INI1, a tumor suppressor gene, detected at location 22q11.2 was described to be “knocked out” in some patients. This may be associated with H&N tumors reported in these patients.

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Acknowledgments

The authors are appreciative and grateful to Dr. Amir Tanay and Dr. Ramit Maoz-Segal, Rheumatology Unit, Edith Wolfson Medical Center, Holon, Israel.

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Authors and Affiliations

  1. Department of Otolaryngology-Head and Neck Surgery, Edith Wolfson Medical Center, Tel Aviv University Sackler School of Medicine, P.O. Box 5, 58100, Holon, Israel

    Tal Marom, Yehudah Roth, Abraham Goldfarb & Udi Cinamon

  2. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada

    Yehudah Roth

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  1. Tal Marom
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  2. Yehudah Roth
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Correspondence to Tal Marom.

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Marom, T., Roth, Y., Goldfarb, A. et al. Head and neck manifestations of 22q11.2 deletion syndromes. Eur Arch Otorhinolaryngol 269, 381–387 (2012). https://doi.org/10.1007/s00405-011-1745-1

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  • DOI: https://doi.org/10.1007/s00405-011-1745-1

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