R.W. Renkema’s research while affiliated with Erasmus MC and other places

Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.

Background: Craniofacial microsomia (CFM) is characterized by several malformations related to the first and second pharyngeal arch. Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. The purpose of this study is to analyze the occurrence of upper and lower limb anomalies in CFM patients. Furthermore, the relation between limb-anomalies and the O.M.E.N.S.+ classification was examined. Methods: A retrospective study was conducted including patients with craniofacial microsomia from craniofacial units in three different countries. Patients were included when clinical and/or radiographic images were available. Demographic, radiographic and clinical information was obtained. Results: A cohort of 688 patients was available and selected for analysis. In total, 18.2% of the patients were diagnosed with at least one upper and/or lower limb anomaly. Upper and lower limb anomalies were seen in respectively 13.4% and 7.8% patients. Patients with other extracraniofacial anomalies had a significantly higher risk for limb anomalies (odd ratio 27.98, p=0.005). Laterality of CFM and a higher O.M.E.N.S. score were not associated with limb anomalies. Conclusions: More than 1 in 6 patients with CFM have limb anomalies. Therefore, clinical awareness for these anomalies is warranted. Examination and, if present, follow up on limb abnormalities in patients with CFM should be implemented in the standard assessment of CFM patients.

This study aimed to investigate the potential progressiveness of mandibular asymmetry and to study factors that influence chin point deviation in patients with unilateral craniofacial microsomia (CFM). Paediatric patients with unilateral CFM with available radiologic imaging and medical photographs were included. Chin point deviation was measured on clinical photographs. A Jonckheere-Terpstra test and linear mixed model for repeated measurements assessed the relation of chin point deviation on natural growth, Pruzansky−Kaban score, and soft tissue score. A total of 110 patients were included. The linear mixed model showed no statistically significant changes of chin point deviation during growth (effect estimate −0.006°, 95% CI –0.04° to −0.03°, p = 0.74). A statistical significant relation between both the Pruzansky-Kaban and soft tissue score on chin point deviation was found (effect estimate −5.10°, 95% CI –6.45° to −3.75°, p ≤ 0.001 and effect estimate −3.42°, CI –5.86° to −0.98°, p ≤ 0.001, respectively). Within the limitations of the study it seems that craniofacial microsomia may be a non-progressive disorder, because chin point deviation did not change over time.

Aim: This article provides a review of a decade of clinical research studies on clinical features, medical and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research. Method: A systematic search of literature was conducted in Embase and Pubmed/Medline Ovid. All publications from 2010 until 2020 that included at least 10 individuals with CFM were considered relevant for this study. Results: A total of 91 articles were included. In the past decade, many new studies on CFM have been published providing more insight on the diagnosis and management of patients with CFM. This review encompasses findings on the clinical difficulties patients with CFM encounter, including the craniofacial and extracraniofacial characteristics of patients with CFM and its related clinical consequences on breathing, feeding, speech, and hearing. Conclusions: A considerable number of large multicentre studies have been published in recent years, providing new insights in the clinical consequences of CFM. The phenotypic variety between patients with CFM makes patient specific treatment tailored to individual needs essential. Research and development of clinical care standards might be challenging due to the heterogeneity of CFM. Future research on clinical and patient reported outcomes can help identify optimal treatment strategies. Cooperation between craniofacial centers, using uniform registration and outcome measurement tools, could enhance research and future care for these patients.

A European guideline on craniofacial microsomia was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders and published in 2020. The guideline provides an overview of optimal care provisions for patients with craniofacial microsomia and recommendations for the improvement of care. This document seeks to provide a tailored overview of this guideline for patients and their families.

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.

Craniofacial microsomia (CFM) is characterized by unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may also be present. This retrospective study provides an overview of the prevalence, types, and characteristics of extracraniofacial anomalies in patients with CFM. All patients diagnosed with CFM seen at four craniofacial centres were included. The patient charts were reviewed and data on patient characteristics and extracraniofacial anomalies were extracted. Of the 991 patients included, 462 (47%) had extracraniofacial anomalies. The prevalence of extracraniofacial anomalies in the various tracts was as follows: vertebral 28%, central nervous system 11%, circulatory system 21%, respiratory tract 3%, gastrointestinal tract 9%, and urogenital tract 11%. Compared to patients without extracraniofacial anomalies, those with an extracraniofacial anomaly were at higher risk of having additional extracraniofacial anomalies in other tracts. 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 physical examination with specific attention to the circulatory, renal, and neurological tracts. Diagnostically, electrocardiography, echocardiography, spine radiography, and renal ultrasound should be performed for patients at risk of extracraniofacial anomalies.