Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study

Abstract

The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial microsomia (CFM) and to determine their prevalence. In addition, the relationship between the OMENS-Plus and Pruzansky-Kaban classification for each patient and the presence of ocular anomalies was investigated. A total of 881 patients with CFM from four different craniofacial centres were included. Data on ocular anomalies were gathered from the patient charts. Ocular anomalies were present in 33.9% of patients. Four subgroups of ocular and adnexal anomalies were identified. Type I ocular anomalies were present in 22.2%, type II in 19.0%, type III in 18.4%, and type IV in 14.5%. Several potentially preventable and treatable ocular anomalies were identified. Higher OMENS-Plus classification orbit and soft tissue scores and Pruzansky-Kaban classification mandible scores were associated with an increased risk of ocular anomalies. Based on these results and the clinical implications ocular anomalies may have, we underline the importance of targeted ophthalmological screening in CFM. Healthcare professionals should be aware of the possibility of ocular anomalies in these patients, especially during the critical period for visual development.

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review

“…Johns et al 72 analysed 89 patients from the same cohort at a later time; 19 patients from the original cohort were lost to follow-up. Several authors described external ear anomalies in patients from the same retrospective multicentre cohort study 6,63,[74][75][76] . However, to avoid a repetition of the same results, only the most recent record describing this cohort was used for further analysis 63 .…”

“…Several authors described external ear anomalies in patients from the same retrospective multicentre cohort study 6,63,[74][75][76] . However, to avoid a repetition of the same results, only the most recent record describing this cohort was used for further analysis 63 .…”

“…External ear malformations were described in 50 records (Supplementary Material Table S2) 5,[12][13][14][15]18,[20][21][22]24,[26][27][28][29][30][32][33][34][35][36][37][38][39][40][41][42][43][44][45][48][49][50][52][53][54][55][56][57][58][59][60][61][62][63][65][66][67]69,71,72 . Microtia, reported in 52-100% of patients, was described in 31 records 5,…”

“…One record did not distinguish between the presence of pre-auricular pits, external auditory canal atresia/stenosis, lobule hypoplasia, and dysmorphic ears, which were reported in 23% of patients 35 . 'Ear' scores from the Orbit, Mandible, Ear, Nerve, and Soft tissue (OMENS) classification were described in nine records 24,26,48,54,57,58,[61][62][63] . E0 (i.e.…”

“…severely malformed ear) in 20-58%. Only Rooijers et al 63 used a version of the OMENS classification that includes the score E4 (i.e. anotia; reported in 2.5% of patients).…”