S13-05 SESSION 13: HYPERTELORISM / CRANIOFACIAL CLEFTS A NOVEL ORBITO ENCEPHALO CRANIAL DYSPLASIA VARIANT TESSIER 9 FACIAL CLEFT

Abstract

Introduction: We present a group of patients with dysplasia involving mesencephalon, prosencephalon, calvarium, scalp, hairline and lateral orbit. These features are classifiable as a variant Tessier 9 cleft. Clinical and radiologic findings are presented, as well as outcomes of treatment. Methods: Retrospective chart review, clinical photographs, 3D CT and MRI exams. Results: 15 patients were included. 9 patients were treated for congenital hydrocephalus due to aqueductal stenosis, and 7/9 had residual craniomegaly. Radiologic findings include pontine or quadrigeminal plate “lipoma” (n=4), squamosal bone dysplasia (n=3), Supernumerary intra-parietal suture (n=7), partial or total synotosis of the coronal or lambdoid sutures (n=5). Hairline findings include a pathognomonic temporal hairline “Omega-dot” or “atoll-like” deformity (n=12), temporal hairline peak (n=2), interrupted lateral eyebrow (n=6) and absent frontal process of the zygomatic bone (n=1). Using the following diagnostic algorithm: 2 findings = possible/tentative diagnosis, 3 or more findings = positive/confirmed diagnosis, our group was divided into 13 positive and 2 possible diagnoses. Conclusion: These patients display a constellation of rare/pathognomonic clinical symptoms with associated radiologic findings and prognostic implications. Patients with congenital hydrocephalus that harbor this anomaly may retain a craniomegalic skull when treated with standard protocols. We present the diagnostic criteria used in this series. Further radiologic examination of brain anomalies and genetic sequencing are ongoing.