European Guideline Craniofacial Microsomia

Abstract

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

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

“…facial asymmetry), resulting in a 100% incidence of ear anomalies, whereas others used more elaborate criteria to include CFM patients, and some did not report the inclusion criteria at all. Internationally, there is no consensus on the minimal diagnostic criteria for CFM 78 . A recent European guideline on CFM recommended the use of the diagnostic criteria proposed by the International Consortium for Health Outcomes Measurement (ICHOM) for CFM 78,79 healthcare professionals, and researchers active in the care and research of patients with CFM.…”

“…Internationally, there is no consensus on the minimal diagnostic criteria for CFM 78 . A recent European guideline on CFM recommended the use of the diagnostic criteria proposed by the International Consortium for Health Outcomes Measurement (ICHOM) for CFM 78,79 healthcare professionals, and researchers active in the care and research of patients with CFM. In essence, the diagnosis of CFM requires the presence of 2 major criteria (i.e.…”

“…Since patients without distinct outer ear anomalies may also suffer from hearing loss, and in the absence of convincing correlations between hearing loss and other phenotypic characteristics, we cannot recommend a protocol for targeted screening. Therefore, we comply with the screening recommendations of the European guideline on CFM that all newborns with CFM undergo a neonatal hearing test 78 . When hearing anomalies are suspected, the infant should be referred to a centre specialized in craniofacial care for complete audiological evaluation, preferably before the age of 3 months.…”

Craniofacial microsomia – more than a structural malformation

“…With regard to differential diagnostics, CFM includes similar symptoms as, for example, CHARGE, Townes‐Brocks and Treacher‐Collins syndromes 1–3,8–11 . At the end of 2020, a Working Group of Craniofacial Microsomia published a consensus article focusing on uniform criteria for CFM in Europe 12 …”

“…[1][2][3][8][9][10][11] At the end of 2020, a Working Group of Craniofacial Microsomia published a consensus article focusing on uniform criteria for CFM in Europe. 12 According to a decree of the Ministry of Social Affairs and Health, the diagnostics and treatment of CFM in Finland are carried out in university hospitals. In CFM cases that include cleft lip and/ or palate, the entire treatment protocol is planned and early-stage surgeries are implemented at Helsinki University Hospital, or in cooperation with the Oulu University Hospital.…”