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.
An appropriate reconstruction strategy after surgical resection of chest wall tumors in children is important to optimize outcomes, but there is no consensus on the ideal approach. The aim of this ...study was to provide an up-to-date systematic review of the literature for different reconstruction strategies for chest wall defects in patients less than 18 years old. A systematic literature search of the complete available literature was performed and results were analyzed. A total of 22 articles were included in the analysis, which described a total of 130 chest wall reconstructions. All were retrospective analyses, including eight case reports. Reconstructive options were divided into primary closure (
= 21 16.2%), use of nonautologous materials (
= 83 63.8%), autologous tissue repair (
= 2 1.5%), or a combination of the latter two (
= 24 18.5%). Quality of evidence was poor, and the results mostly heterogeneous. Reconstruction of chest wall defects can be divided into four major categories, with each category including its own advantages and disadvantages. There is a need for higher quality evidence and guidelines, to be able to report uniformly on treatment outcomes and assess the appropriate reconstruction strategy.
Objectives
In cleft palate patients, the soft palate is commonly closed using straight-line palatoplasty, Z-palatoplasty, or palatoplasty with buccal flaps. Currently, it is unknown which surgical ...technique is superior regarding speech outcomes. The aim of this review is to study the incidence of speech correcting surgery (SCS) per soft palatoplasty technique and to identify variables which are associated with this outcome.
Materials and methods
A systematic literature search was carried out according to the PRISMA guidelines. Inclusion and exclusion criteria were applied to focus on the incidence of SCS after soft palatoplasty. Additional variables like surgical modification, cleft morphology, syndrome, age at palatoplasty, fistula and assessment of velopharyngeal function were reported. A modified New-Ottawa Scale (NOS) was used for quality appraisal. Pooled estimates from the meta-analysis were calculated using a random-effects model.
Results
One thousand twenty-nine studies were found of which 54 were included in the analysis. The pooled estimate proportion of SCS after straight-line palatoplasty was 19% (95% CI 15–24), after Z-palatoplasty 6% (95% CI 4–9), and after palatoplasty with buccal flaps 7% (95% CI 4–11).
Conclusions
A lower SCS rate was found in patients receiving Z-palatoplasty when compared to straight-line palatoplasty. We propose a minimum set of outcome parameters which ideally should be included in future studies regarding speech outcomes after cleft palate repair.
Clinical relevance
Current literature reports highly heterogenous data regarding cleft palate repair. Our recommended set of parameters may address this inconsistency and could make intercenter comparison possible and of better quality.
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.
The ontogeny of Robin sequence Logjes, Robrecht J. H.; Breugem, Corstiaan C.; Van Haaften, Gijs ...
American journal of medical genetics. Part A,
June 2018, 2018-06-00, 20180601, Letnik:
176, Številka:
6
Journal Article
Recenzirano
Odprti dostop
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.
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.
The aim of this study was to evaluate the association between flap harvest technique and occurrence of abdominal bulging.
A retrospective analysis of 159 patients undergoing DIEP flap breast ...reconstruction between 2014 and 2021 in the University Medical Center Utrecht was conducted. Outcomes measured were preoperative rectus diastasis, flap weight, laterality of flap harvest (unilateral or bilateral), timing of the harvest (immediate or delayed), number of perforators harvested (single or multiple), and location of the harvested perforator (medial, lateral, or both).
In 159 patients, 244 DIEP flaps were performed, 16 of these donor-sites (6.6%) developed a clinically evident abdominal bulge. When preoperative rectus abdominis diastasis was found (n = 97), postoperative bulging occurred significantly more often (
< 0.01). Patients in whom the medial perforator artery was harvested for reconstruction (n = 114) showed less abdominal bulging than patients in whom the lateral (n = 92) was harvested (
= 0.02). Using single versus multiple perforators for the DIEP flap, bilateral versus unilateral reconstruction or timing of the operation showed no significant difference in outcome of bulging (
= 1.00,
= 0.78,
= 0.59, respectively).
The incidence of bulging in our study cohort is comparable to the literature. Harvesting the medial perforator artery for the DIEP flap showed less abdominal bulging than using the lateral perforator artery in a DIEP flap breast reconstruction. Also, preoperative rectus diastasis was found to be an important risk factor for the occurrence of bulging.
Objectives
In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible influencing factors are ...scarce. The study aim was to elucidate these factors to improve treatment strategies.
Material and methods
A retrospective comparative cohort study was conducted, consisting of 69 infants diagnosed with both RS and a cleft palate and 64 isolated cleft palate only (iCPO) infants. Data regarding FD, growth, and airway intervention were collected during the first 2 years of life. A systematic review of the literature was conducted to identify reported FD in RS patients.
Results
RS patients had more FD (91 %) than iCPO patients (72 %;
p
= 0.004). Also, nasogastric (NG)-tube feeding was necessary more frequently and for a longer period (both
p
< 0.001). Growth was lower in RS than iCPO infants (
p
= 0.008) and was not affected by the kind of airway management (conservative/surgical;
p
= 0.178), cleft palate grade (
p
= 0.308), or associated disorders (
p
= 0.785). By contrast, surgical intervention subtype did significantly affect growth. Mean reported FD for RS in the literature is 80 % (range = 47–100 %), and 55 % (range = 11–100 %) of infants need NG-tube feeding.
Conclusions
FD is present in a large proportion of infants with RS, which indicates the need for early recognition and proper treatment to ensure optimal growth. Growth during the first 2 years of life is significantly lower in RS patients than iCPO patients, which indicates the need for careful attention and long-term follow-up.
Clinical relevance
This study indicates the need for early recognition and proper treatment of FD in RS to ensure optimal growth. In addition, growth needs careful attention and long-term follow-up.
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.
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