Goldenhar症候群とDuane症候群が併発した1例

A case of Goldenhar syndrome associated with Duane's retraction syndrome

　31歳女性で，Sugarの分類による完全型Goldenhar症候群と両側Duane症候群（type 1）が併発した例を経験した．本症例に対して，全身麻酔下にて，Goldenhar症候群に，両側結膜下Dermoid切除術を，両側Duane症候群外転制限に，上下直筋部分移動術を施行し，さらにその際外直筋付着部より10mm以上筋腹部で外直筋生検を行い，病理組織学的検索を行った．得られた資料では，光顕的に筋線維は見られず，電顕にて約700Åの周期性横縞を持つtendon fibrilsの集族，腱組織と同定された．本症例のように，Golden-har症候群とDuane症候群が併発した症例は極めてめずらしく，胚形成という観点から胎生期，すなわち約5,6週前後における発生異常を強く示唆しているものと推論した．

A 31-year-old female presented with limitation of abduction, retraction of the eyeball and narrowing of the palpebral fissure during adduction in both eyes, and bilateral tumors in the bulbar conjunctiva. These fut-ures were present since birth. After further examina-tions, she was diagnosed as bilateral type 1 Duane's syndrome.

As additional findings, she showed numerous appen-dages along the line from the tragus to the mouth as well as stenosis of right external auditory meatus. Radiological studies showed right facial micrsomia and multiple vertebral anomalies involving C₁ to C₄.

We performed excision of bilateral conjunctival der-molds and temporal transposition of bilateral vetical recti muscles. Biopsy of lateral rectus muscles showed them to be composed of solely tendon fibers with trans-verse regularity of 20 nm.

The associated ocurrence of Goldenhar syndrome and Duane's retraction syndrome in the present case could have resulted from a disturbance in embryogenesis at about 5 to 6 weeks.

Rinsho Ganka (Jpn J Clin Ophthalmol) 40(9) : 1085-1088, 1986