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.
and the ERN CRANIO Working Group on Craniofacial Microsomia Index Summary Chapter 1. Introduction 1.1 Incentive for making the guideline 1.2 Purpose of the guideline 1.3 Scope of the guideline 1.4 Relationship to other congenital facial malformations 1.5 Intended users of the guideline 1.6 About craniofacial microsomia 1.7 European Reference Networks Chapter 2. Methodology 2.1 Validity of the guideline 2.2 General information 2.3 Aim and target audience guideline 2.3.1 Aim of the Guideline 2.3.2 Target audience 2.3.3 Patient population 2.4 Steering group 2.5 Conflicts of interest 2.6 Patient perspectives 2.7 Implementation 2.8 Methods 2.8.1 Bottleneck analysis 2.8.2 Questions and outcomes 2.8.3 Literature search and selection of literature 2.8.4 Quality assessment of individual studies 2.8.5 Summary of literature 2.8.6 Quality of evidence 2.8.7 Formulating conclusions 2.8.8 Considerations 2.8.9 Formulating recommendations 2.8.10 Conditions (organisation of care) 2.8.11 Knowledge gap 2.8.12 Evaluation and authorisation phase Chapter 3. Diagnostic criteria for craniofacial microsomia 3.1 Based on which criteria is a child or adult with craniofacial microsomia diagnosed? Chapter 4. Screening, monitoring and indication for treatment 4.1 Breathing difficulties in craniofacial microsomia
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.
and the ERN CRANIO Working Group on Craniofacial Microsomia Index Summary Chapter 1. Introduction 1.1 Incentive for making the guideline 1.2 Purpose of the guideline 1.3 Scope of the guideline 1.4 Relationship to other congenital facial malformations 1.5 Intended users of the guideline 1.6 About craniofacial microsomia 1.7 European Reference Networks Chapter 2. Methodology 2.1 Validity of the guideline 2.2 General information 2.3 Aim and target audience guideline 2.3.1 Aim of the Guideline 2.3.2 Target audience 2.3.3 Patient population 2.4 Steering group 2.5 Conflicts of interest 2.6 Patient perspectives 2.7 Implementation 2.8 Methods 2.8.1 Bottleneck analysis 2.8.2 Questions and outcomes 2.8.3 Literature search and selection of literature 2.8.4 Quality assessment of individual studies 2.8.5 Summary of literature 2.8.6 Quality of evidence 2.8.7 Formulating conclusions 2.8.8 Considerations 2.8.9 Formulating recommendations 2.8.10 Conditions (organisation of care) 2.8.11 Knowledge gap 2.8.12 Evaluation and authorisation phase Chapter 3. Diagnostic criteria for craniofacial microsomia 3.1 Based on which criteria is a child or adult with craniofacial microsomia diagnosed? Chapter 4. Screening, monitoring and indication for treatment 4.1 Breathing difficulties in craniofacial microsomia
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