Best practices for the diagnosis and evaluation of infants with robin sequence:a clinical consensus report

Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. Objective: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. Evidence Review: Based on a literature review and expert opinion, a clinical consensus report was generated. Findings: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. Conclusions and Relevance: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS

Perioral Wrinkles: Histologic Differences Between Men and Women

Background: Women tend to develop more and deeper wrinkles in the perioral region than men. Although much is known about the complex mechanisms involved in skin aging, previous studies have described histologic differences between men and women with respect to skin aging only incidentally and have not investigated the perioral region. Objective: The purpose of this study was to investigate gender-specific differences in the perioral skin. Methods: To determine wrinkle severity, skin surface replicas of the upper lip region in 10 male and 10 female fresh cadavers were analyzed by using the dermaTOP blue three-dimensional digitizing system (Breuckmann, Meersburg, Germany). In 30 fresh male and female cadavers, three full-thickness lip resections were investigated in a blinded fashion for specific histologic features. All results were statistically analyzed in a linear regression model with SPSS software (version 15.0; SPSS, Chicago, IL). Results: The female replicas showed more and deeper wrinkles than the male replicas (P <.01). Histologic analysis revealed that the perioral skin of men displayed a significantly higher number of sebaceous glands (P = .000; 95% confidence interval [CI] 23.6-53.2), sweat glands (P = .002; 95% CI 2.1-8.1), and a higher ratio between vessel area and connective tissue area in the dermis (P = .009; 95% CI 0.003-0.021). The amount of hair follicles did not significantly differ between men and women, although the average number of sebaceous glands per hair follicle was greater in men (P = .002; 95% CI 0.33-1.28). Conclusions: Women exhibit more and deeper wrinkles in the perioral region and their skin contains a significantly smaller number of appendages than men, which could be a feasible explanation for why women are more susceptible to development of perioral wrinkles. (Aesthet Surg J; 29:467-472.

Tracheostomy versus mandibular distraction osteogenesis in infants with Robin sequence: A comparative cost analysis

Many treatments have been described for infants with Robin sequence and severe respiratory distress, but there have not been many comparative studies of outcome and cost-effectiveness. The aim of this study was to compare the cost and complications of two common interventions - mandibular distraction osteogenesis and tracheostomy. Nine patients with isolated Robin sequence (mandibular distraction osteogenesis, n = 5, and tracheostomy, n = 4) were included in the analyses. Predetermined costs and complications were obtained retrospectively from medical records and by questionnaires to the parents over a 12-month period. Overall direct costs (admission to hospital, diagnostics, surgery, and homecare) were 3 times higher for tracheostomy (€105.523 compared with €33.482, p = 0.02). Overall indirect costs (absence from work) were almost 5 times higher (€2.543 compared with €543, p = 0.02). There was a threefold increase in overall total cost/patient (both direct and indirect) for tracheostomy (€108.057 compared with 34.016, p = 0.02) and 4 times more complications were encountered. This study shows that mandibular distraction osteogenesis in infants diagnosed with Robin sequence costs significantly less and results in fewer complications than tracheostomy, and this contributes to our current knowledge about the ideal approach for infants with Robin sequence and might provide a basis for institutional protocols in the future. © 2013 The British Association of Oral and Maxillofacial Surgeons

Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion

BACKGROUND: Numerous studies have proven the efficacy of mandibular distraction osteogenesis or tongue-lip adhesion in Robin sequence infants with upper airway obstruction. However, none has compared health-related quality of life outcomes. METHODS: In the present retrospective study, Robin sequence infants younger than 1 year, who underwent mandibular distraction osteogenesis or tongue-lip adhesion, were included (2006 to 2016). The infants' caregivers were asked to complete a questionnaire based on the Glasgow Children's Benefit Inventory. RESULTS: The response rate was 71 percent (22 of the 31 questionnaires; mandibular distraction osteogenesis, 12 of 15; and tongue-lip adhesion, 10 of 16) and median age at surgery was 24 days (range, 5 to 131 days). Median total Glasgow Children's Benefit Inventory scores after mandibular distraction osteogenesis and after tongue-lip adhesion were 21.9 (interquartile range, 9.4) and 26.0 (interquartile range, 37.5), respectively (p = 0.716), indicating an overall benefit from both procedures. Positive changes were observed in all subgroups emotion, physical health, learning, and vitality. In syndromic Robin sequence, both procedures demonstrated a lower positive change in health-related quality of life compared with isolated Robin sequence (p = 0.303). CONCLUSIONS: Both surgical procedures demonstrated an overall benefit in health-related quality-of-life outcomes, with no significant differences. The authors' findings contribute to the debate regarding the use of mandibular distraction osteogenesis versus tongue-lip adhesion in the surgical treatment of Robin sequence; however, studies evaluating health-related quality of life in larger Robin sequence cohorts are necessary to identify which procedure is likely to be best in each individual Robin sequence infant. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III

A systematic review on the outcome of mandibular distraction osteogenesis in infants suffering Robin sequence

Objectives: Mandibular distraction osteogenesis (MDO) has been successfully applied in infants suffering Robin sequence (RS) with severe upper airway obstruction, but no comparative studies for the different types of MDO exist to date. The objective of the current study was to systematically review the published data considering this matter, providing a fundament for protocols and a more conscious treatment strategy for infants with RS in the near future. Material and methods: For the period from January 1966 to January 2012, the Pubmed, EMBASE, and Cochrane Library databases were searched. Abstracts were screened based on predetermined selection criteria. Relevant full-text articles were retrieved. The articles were analyzed on the type of MDO used, preoperative workup, patient characteristics, postoperative outcome, and complications. Results: The search yielded 109 articles. After checking abstracts and full texts on predetermined inclusion and exclusion criteria, 12 studies (four describing external MDO, five internal MDO, and three both types) were extracted for further analyses. Conclusion: Internal MDO seems very feasible in infants suffering RS, minimizing side effects such as hypertrophic scarring, nerve damage, and extensive care needs, although the indications for usage are more limited compared to the external device. Corresponding protocols and long-term outcome studies are needed to make a better comparison and the use and indication of the different types of distraction even more distinct. Clinical relevance: A base for a guideline to support the choice of a designated operative management for neonates with RS is provided, hereby obviating possible complications of the different types of MDO in the future. © 2013 Springer-Verlag Berlin Heidelberg

The ontogeny of Robin sequence

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as “Robin sequence” (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS-plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up-to-date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms

Long-Term Results of Mandibular Distraction Osteogenesis with a Resorbable Device in Infants with Robin Sequence : Effects on Developing Molars and Mandibular Growth

Background: Mandibular distraction osteogenesis with a unidirectional resorbable device is an effective treatment option for severe upper airway obstruction in infants with Robin sequence. Long-term effects, especially with regard to tooth development and mandibular outgrowth, are not known. Methods: Robin sequence infants with a follow-up of greater than or equal to 5 years were included. Baseline characteristics were extracted from medical records. Panoramic and lateral cephalometric radiographs were analyzed and patients were recalled for physical examination. Results: Ten infants underwent mandibular distraction osteogenesis at a mean age of 3.7 months (median, 19 months; range, 11 days to 27 months). Mean length of follow-up was 6.8 years (range, 5.0 to 7.9 years). Ten Robin sequence infants without mandibular distraction osteogenesis (mean length of follow-up, 7.4 years; range, 6.7 to 8.9 years) were the controls. Shape anomalies, positional changes, and root malformations of molars were seen significantly more often than in the control group (p = 0.007, p = 0.009, and p = 0.043, respectively). Mandibular length was shorter (p = 0.030), but mandibular ramus height was comparable (p = 0.838) with that of the non-mandibular distraction osteogenesis group. Compared with healthy controls, all Robin sequence infants had a significantly shorter mandible. Conclusions: Mandibular distraction osteogenesis with a resorbable system reveals overall good short-and long-term results, but the effects on developing molars and mandibular outgrowth likely necessitate secondary procedures. This factor should be considered when deciding on treatment options and counseling of parents. Clinical Question/Level of Evidence: Therapeutic, III