口蓋裂の治療過程で発見したStickler症候群の4例

• Published in: 日本口腔外科学会雑誌 Vol. 58; no. 12; pp. 733 - 737
• Main Authors: 渡邊, 章, 内山, 健志, 村松, 恭太郎, 成田, 真人, 中野, 洋子, 高野, 伸夫
• Format: Journal Article
• Language: Japanese
• Published: 社団法人 日本口腔外科学会 20.12.2012
• Subjects: スティックラー症候群; 口蓋裂; 小下顎; 網膜剥離; 骨端異形成
• ISSN: 0021-5163; 2186-1579
• DOI: 10.5794/jjoms.58.733

The Stickler syndrome (STL) is an autosomal dominant inherited disease caused by mutation of the collagen genes and is classified into STL1, STL2, and STL3. It is associated with eye manifestations, such as progressive myopia and retinal detachment, hypoplasia of the face, cleft palate, microgenia, and epiphyseal dysplasia. Patients with STL consult oral surgeons because of conditions such as cleft palate and microgenia in an early stage in many cases, but the rate of diagnosis is low. Late diagnosis of STL1 and STL2 can lead to aggravation of eye manifestations, potentially causing loss of eyesight. Therefore, dentists need to thoroughly understand this syndrome. We report four cases of STL. The patients presented at Tokyo Dental College Hospital for the treatment of cleft palate, immediately after birth. All patients had microgenia, face midline hypoplasia, detachment between eyes, and extreme myopia. Their families had eye diseases such as nearsightedness and cataracts and therefore consulted pediatricians. The pediatricians found epiphyseal dysplasia an X-ray films of the pelvis and knee, and STL was diagnosed. Moreover, gene analysis revealed mutation at COL2A1 in two cases, and mutation at COL11A2 was suggested in another case. Since these patients were treated in departments of pediatrics and ophthalmology at an early stage, eye condition is stable. When examining patients with cleft palate it is necessary to keep in mind the possibility of SLT while assessing other clinical findings.