Ramaglia Luca, Morgese Fabio, Filippella Mariagiovanna, Colao Annamaria
Dipartimento di Scienze Odontostomatologiche e Maxillo-Facciali, University of Naples Federico II, Naples, Italy.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jun;103(6):e30-4. doi: 10.1016/j.tripleo.2007.01.013. Epub 2007 Apr 23.
Gardner's syndrome (GS) is a hereditary disorder inherited as autosomal dominant with complete penetrance and variable expression. GS is a variant of familial adenomatous polyposis characterized by extracolonic manifestations including osteomas, dental anomalies, and epidermoid cysts. The association between GS and endocrine abnormalities has been well documented but a direct pituitary involvement has never been reported. We present a case of oral and maxillofacial manifestations in an adult patient affected by GS associated with growth hormone deficiency, a hitherto unreported association. The possible pathogenic mechanisms are discussed.
加德纳综合征（GS）是一种遗传性疾病，以常染色体显性方式遗传，具有完全外显率和可变表达。GS是家族性腺瘤性息肉病的一种变体，其特征为结肠外表现，包括骨瘤、牙齿异常和表皮样囊肿。GS与内分泌异常之间的关联已有充分记录，但垂体直接受累的情况从未有过报道。我们报告一例成年GS患者出现口腔颌面部表现并伴有生长激素缺乏，这是一种迄今未报道过的关联。文中讨论了可能的致病机制。
