Craniofacial microsomia (CFM) is characterized by a unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may be present. This retrospective study provides an overview of the prevalence and types of extracraniofacial anomalies in patients with CFM and studied the characteristics of patients with CFM and extracraniofacial anomalies. All patients diagnosed with CFM seen in four craniofacial centers were included. Patients charts were reviewed and data on patient characteristics and extracraniofacial anomalies were extracted. A total of 991 patients were included. Forty-six percent of the patients had extracraniofacial anomalies. The prevalence of extracraniofacial anomalies in all various tracts was: vertebral 28%, central nervous system 11%, circulatory system 21%, respiratory tract 3%, gastro-intestinal tract 9%, and urogenital tract 11%. Patients with an extracraniofacial anomaly had a higher risk for having additional extracraniofacial anomalies in other tracts compared to patients without extracraniofacial anomalies. The prevalence of extracraniofacial anomalies was greater in patients with bilateral CFM, a more severe mandibular deformity or facial nerve or soft tissue deformity. Patients with CFM should be screened for extracraniofacial anomalies by psychical examination with specific attention aimed at the circulatory, renal, and neurological tracts. Diagnostically, electrocardiography, echocardiogram, spine radiography and a renal ultrasound should be obtained in patients at risk for extracraniofacial anomalies.
Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in order to estimate the need for ophthalmological screening in CFM patients. Online databases were searched, and data on the number of patients, type and incidence of ocular anomalies, and visual acuity were extracted. Four subgroups of ocular and adnexal anomalies were identified, to provide an overview of the different anomalies. Twenty-five papers analysing 1419 patients in total were included. Ocular anomalies were documented in 6.7-100% of patients. The most reported type I ocular anomalies were eyelid coloboma, lipodermoids, and orbital dystopia. The most reported type II ocular anomalies were epibulbar dermoid, microphthalmia, and anophthalmia. Ptosis and strabismus were the most reported type III anomalies, and irregular astigmatism was the most reported type IV ocular anomaly. Visual impairment in general was reported in 8-71.4% of patients, with severe visual impairment in 11.1-71.4% and amblyopia in 16.3%. This study provides a detailed overview of ocular anomalies in CFM and their prevalence. Furthermore, we propose a new classification to organize ocular anomalies into four clinically relevant subtypes. Finally, the high prevalence of ocular anomalies and visual impairment in this study suggests that CFM patients should undergo ophthalmological screening at least once during the sensitive period.
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.
Objectives: In patients with end stage, renal disease a high rate of morbidity and mortality is present. Studies suggest that end stage renal disease may affect oral health. Therefore, the aim of this study was to perform a scoping review on periodontal disease, dental caries, xerostomia, and hyposalivation in end stage renal disease patients. Materials and methods:A literature search (in PubMed and Embase.com) was performed up to September 29, 2020, in collaboration with a medical information specialist. Included outcome variables were the community periodontal index, probing pocket depth, gingival index, bleeding on probing, decayed-missing-filled-teeth, carious-absent-obturated index, Xerostomia Inventory and the (un)stimulated whole salivary flow rate.Results: Forty three out of 1293 studies were included in the final review comprising 7757 end stage renal disease patients. The average age was 58.3 ± 29.4 years.28.2%-78.8% of patients reported xerostomia and the (un)stimulated salivary flow rates were significantly lower. Higher community periodontal index scores were measured in end stage renal disease patients. More decayed-missing-filled-teeth were recorded, but no differences were found between groups.Conclusions: Xerostomia and hyposalivation were highly prevalent in end stage renal disease patients. Patients have more deepened pockets, but an equal number of carious teeth compared to healthy controls.
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