Swanson Jordan W, Bartlett Scott P
Philadelphia, Pa. From the Division of Plastic Surgery, Perelman School of Medicine at the University of Pennsylvania, The Children's Hospital of Philadelphia.
Plast Reconstr Surg. 2016 Jan;137(1):125e-134e. doi: 10.1097/PRS.0000000000001922.
Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting.
The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed.
Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision.
Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
已发现数例患有眼球异位和颅面差异的患者存在眼眶发育异常和额骨缺损。这种畸形在特征上不同于脑膨出、蝶骨发育异常、颅面骨发育不全或非典型腭裂的鉴别诊断。
作者回顾性分析了两个儿科中心2000年至2014年间患有眼球异位或眶额部异常患者的颅面登记资料。对这些患者的特征和治疗情况进行了分析。
共识别出4例先天性眶额骨发育异常患者，其中3例为单侧额骨缺损，1例为双侧额骨缺损。出生后不久即发现患侧平均眼球内陷5.0 mm及垂直性眼球异位的临床体征。单侧病例中横向骨缺损的平均表面积为3.9平方厘米，双侧病例为10.7平方厘米。患者表现出典型的眼眶垂直伸长，平均眶高宽比为1.30，比正常平均值1.14高出14%，且眶下缘移位。颅骨轮廓显示额部隆起和轻度长头畸形。3例患者接受了额眶重建手术，采用颅骨移植修复眶顶缺损并抬高眶底，成功减少了眼球异位并保留了每位患者的视力。1例患者术后随访11年，效果持久，无需手术翻修。
眶额骨发育异常此前未见报道，包括额骨缺损和眼球异位。一期额眶重建似乎能充分矫正该畸形。
临床问题/证据级别：治疗性，IV级。
