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.
Highlights
Craniofacial microsomia (CFM) is a congenital disorder affecting structures derived from the first and second pharyngeal arches
The aim of this study was to describe and categorize the types of ocular and adnexal anomalies diagnosed in patients with craniofacial microsomia (CFM) and to determine their respective prevalence rates
The following data were extracted from the electronic patient files and paper charts: patient demographics, i.e. sex and date of birth, the side of the face that was affected by CFM, the severity of the deformity, and the presence of ocular and adnexal anomalies
Summary
Craniofacial microsomia (CFM) is a congenital disorder affecting structures derived from the first and second pharyngeal arches. It is characterized by a diverse spectrum of anomalies, including underdevelopment of the mandible, orbit, ear, facial nerve, and soft tissues. The incidence ranges from one in 3000 to one in 26,000 live births, making it the second most common congenital anomaly of the head and neck.. The aetiology of CFM is unknown, but several theories exist, of which the originally proposed theory of haemorrhage of the stapedial artery during embryonic development is probably best known.[3,6] More recently, a disruption in the migration, proliferation, and differentiation of cranial neural crest cells to the branchial arches during embryonic development was proposed as playing a key role in the development of the malformations seen in CFM.[7,8]
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