Let’s Face It: Causes, treatment and consequences of rare facial clefts

The incidence of a congenital malformation is 1 on 33 live newborn. A congenital malformation can occur in all tissues and all body parts, and can present as an isolated malformation or as a part of a syndrome. Congenital malformations of the skull, face and jaws represent the craniofacial malformations. There are numerous types of congenital craniofacial malformations, which differ in location, pathomorphogenesis and incidence among other things. Congenital craniofacial clefts, other than just clefts of the lip and palate, are a very rare condition. These ‘rare facial clefts’ encompass a wide variety of craniofacial dysmorphologies. All facial parts and all tissue-layers of the face can be involved in various degrees of severity. Bone and soft tissues are rarely involved to the same extent. The cleft can occur unilaterally or bilaterally, in the midline of the face or more paramedian or oblique. The affected soft tissue and/or skeletal elements show a disturbed growth-pattern, resulting in more obvious or more severe deformities over the years. This underdevelopment of soft tissue and osseous structures occurs in three dimensions

Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft

Background Treatment of patients with severe congenital facial disfigurements is aimed at restoring an aesthetic and functional balance. Besides an adequate level of satisfaction, an individual's acceptance of facial appearance is important to achieve because nonacceptance is thought to lead to daily psychological struggles. This study objectified the prevalence of nonacceptance among adult patients treated for their severe facial clefts, evaluated risk factors, and developed a screening tool. Methods The study included 59 adults with completed treatment for their severe facial cleft. All the patients underwent a semistructured in-depth interview and filled out the Body Cathexis Scale. Results Nonacceptance of facial appearance was experienced by 44 % of the patients. Of the nonaccepting patients, 72 % experienced difficulties in everyday activities related to their appearance versus 35 % of the accepting patients. Acceptance did not correlate with objective severity or bullying in the past. Risk factors for nonacceptance were high self-perceived visibility, a troublesome puberty period, and an emotion-focused coping strategy. Also, the presence of functional problems was shown to be highly associated. Conclusions The objective severity of the residual deformity did not correlate with the patients' acceptance of their facial appearance, but the self-perceived visibility did correlate. The process of nonacceptance resembles the process seen in patients with body dysmorphic disorders. Surgical treatment is no guarantee for an improvement in acceptance and is therefore discouraged for patients who match the risk factors for nonacceptance unless it solves a functional problem. The authors therefore recommend screening patients for nonacceptance and considering psychological treatment before surgery is performed. Level of Evidence III This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors at www.springer.com/00266

Apert syndrome: the Paris and Rotterdam philosophy

Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols

Saethre–Chotzen syndrome: long-term outcome of a syndrome-specific management protocol

Aim: To assess the long-term outcomes of our management protocol for Saethre–Chotzen syndrome, which includes one-stage fronto-orbital advancement. Method: All patients born with Saethre–Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, a

Rasch Analysis of Patient- and Parent-Reported Outcome Measures in the International Consortium for Health Outcomes Measurement (ICHOM) Standard Set for Cleft Lip and Palate

Objectives: The aim of this study was to evaluate the psychometric performance of the patient- and parent-reported measures in the International Consortium for Health Outcomes Measurement (ICHOM) Standard Set for Cleft Care, and to identify ways of improving concept coverage. Methods: Data from 714 patients with cleft lip and/or palate, aged 8 to 9, 10 to 12.5, and 22 years were collected between November 2015 and April 2019 at Erasmus University Medical Center, Boston Children's Hospital, Duke Children's Hospital, and from participating sites in the CLEFT-Q Phase 3 study. The Standard Set includes 9 CLEFT-Q scales, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, the Child Oral Health Impact Profile–Oral Symptoms Scale (COHIP-OSS), and the Intelligibility in Context Scale (ICS). Targeting, item-fit statistics, thresholds for item responses, and measurement precision (PSI) were analyzed using Rasch measurement theory. Results: The proportion of the sample to score within each instruments range of measurement varied from 69% (ICS) to 92% (CLEFT-Q teeth and COHIP-OSS). Specific problems with individual items within the NOSE and COHIP-OSS questionnaires were noted, such as poor item fit to the Rasch model and disordered thresholds (6 of 10). Reliability measured with PSI was above 0.82 for the ICS and all but one CLEFT-Q scale (speech distress). PSIs were lowest for the COHIP-OSS (0.43) and NOSE questionnaire (0.35). Conclusion: The patient- and parent-reported components within the facial appearance, psychosocial function, and speech domains are valid measures; however, the facial function and oral health domains are not sufficiently covered by the CLEFT-Q eating and drinking, NOSE, and COHIP-OSS, and these questionnaires may not be accurate enough to stratify cleft-related outcomes

Differences in rate of complete excision of basal cell carcinoma by dermatologists, plastic surgeons and general practitioners

__Background:__ Due to the increasing incidence of basal cell carcinoma (BCC) and rising health care costs, health care insurance companies seek ways to shift skin surgery for BCC from secondary to primary care. __Objectives:__ To study the differences in complete excision of BCC by general practitioners (GPs), dermatologists, and plastic surgeons. Methods: A retrospective cross-sectional study of pathology records of 2,986 standard excisions of primary BCCs performed by a GP, dermatologist, or plastic surgeon in the area of Southwest Netherlands between 2008 and 2014. To compare the risk of an incomplete BCC excision between the specialties, the odds ratio (OR) was used adjusted for patient age, sex, tumor site, size, and histological subtype. __Results:__ BCCs were completely excised by GPs in 70%, which was lower than the 93% by dermatologists and 83% by plastic surgeons (p < 0.001). Compared to the dermatologist, BCCs which were excised by a GP were 6 times higher at risk of an incomplete excision (adjusted OR 6, 95% CI 5-8) and 2 times higher at risk when excised by a plastic surgeon (adjusted OR 2, 95% CI 2-3). __Conclusion:__ BCCs were more often completely exc

Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis

Background: Children with syndromic craniosynostosis (sCS) often suffer from obstructive sleep apnea (OSA) and intracranial hypertension (ICH). Both OSA and ICH might disrupt sleep architecture. However, it is unclear how surgically treating OSA or ICH affects sleep architecture. The aim of this study was twofold: to explore the usefulness of sleep architecture analysis in detecting disturbed sleep and to determine whether surgical treatment can improve it. Methods: Eighty-three children with sCS and 35 control subjects, who had undergone a polysomnography (PSG), were included. Linear-mixed models showed the effects of OSA and ICH on sleep architecture parameters. In a subset of 19 patients, linear regression models illustrated the effects of OSA-indicated and ICHindicated surgery on pre-to-postoperative changes. Results: An increase in obstructive-apnea/hypopnea index (oAHI) was significantly associated with an increase in N2-sleep, arousal index, and respiratoryarousal index and a decrease in REM-sleep, N3-sleep, sleep efficiency, and sleep quality. ICH and having sCS were not related to any change in sleep architecture. OSA-indicated surgery significantly increased the total sleep time and sleep efficiency and decreased the arousal index and respiratory-arousal index. ICHindicated surgery significantly decreased REM-sleep, N1-sleep, sleep efficiency, and sleep quality. Conclusions: For routine detection of disturbed sleep in individual subjects, PSGassessed sleep architecture is currently not useful. OSA does disrupt sleep architecture, but ICH does not. OSA-indicated surgery improves sleep architecture, which stresses the importance of treating OSA to assure adequate sleep. ICH-indicated surgery affects sleep architecture, although it is not clear whether this is a positive or negative effect