Ocular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study.

BACKGROUND: Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by bilateral hypoplasia of facial structures and periorbital, ocular, and adnexal anomalies. The purpose of this multicenter study was to report the prevalence of ocular and adnexal anomalies in TCS and to identify patients at risk for visual impairment. METHODS: The medical records of patients seen at four craniofacial centers were reviewed retrospectively. The following data were reported: primary and secondary ocular and adnexal anomalies, orthoptic and ophthalmological findings, and severity of TCS based on the facial deformity. RESULTS: A total of 194 patients were included, of whom 49.5% were examined by an ophthalmologist or optometrist. The mean age at the first visual acuity measurement was 6.96 ± 6.83 years (range, 1.50-47.08); at final measurement, 11.55 ± 10.64 years (range, 1.75-62.58). Primary ocular anomalies were reported in 98.5% of cases, secondary anomalies in 34.5%, strabismus in 27.3%, refractive errors in 49.5%, and visual impairment in 4.6%. We found no association between ocular anomalies and visual impairment or between the severity of TCS and ocular anomalies or visual impairment, except for an increased prevalence of secondary ocular anomalies in patients with more severe manifestations of TCS. CONCLUSIONS: Ocular anomalies were present in nearly all patients with TCS, even in mild cases.

Adrenal Incidentaloma and Adherence to International Guidelines for Workup Based on a Retrospective Review of the Type of Language Used in the Radiology Report.

INTRODUCTION: The purpose of this study is to explore what terms are used to describe adrenal incidentalomas and to determine what reporting factors are associated with clinicians adhering to international guidelines. METHODS: This retrospective study was approved by the institutional review board, with a waiver of informed consent. Adrenal incidentaloma cases were identified from CT reports between 2010 and 2012 and filtered based on terminology used to describe the adrenal mass at initial presentation. Cases were divided into two groups: masses described with specific terms (ie, nodule, presumably ≥1 cm in diameter) and nonspecific terms (ie, plump, likely to be smaller). P values were calculated using Student's t test and χ2 test. Rate of adherence of clinicians to workup guidelines was determined for both groups and was analyzed. RESULTS: Of 1,112 cases, 604 had a specific description of the adrenal mass. Patients of the specific group had a significantly larger mass (P < .01) and referral frequency was higher (P < .01). Of the nonspecific masses, 99.2% (504 of 508) were ≥1 cm in diameter, compared with 98.3% of the specific masses (594 of 604). Furthermore, diagnostic workup was more likely to occur when a specific term was used; when Houndsfield unit, size of the mass, and diagnostic recommendation were reported; and when adrenal incidentaloma findings were repeated in the conclusion of the report (all P < .01). CONCLUSION: Our study shows that inconsistent use of terms in radiology reports has to be avoided to increase adequate adrenal incidentaloma workup. A structured and thorough report with use of standardized terminology may increase adherence to international guidelines.