Isolated Robin sequence in siblings: Review of current concepts

Costa, João Nunes da; Matias, Júlio

doi:10.1016/j.bjps.2014.08.045

Cited by 6 publications

(6 citation statements)

References 34 publications

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“…This mirrors our limited insight in pathogenesis of RS in general. SOX9 can be involved in the pathogenesis of isolated RS [Gordon et al, ] and sometimes syndromic RS [Rainger et al, ], and several other genes have been suggested as candidate genes for RS [Jakobsen et al, ; Jakobsen et al, ; Nunes da Costa and Matias, ]. Except for the influence of SOX9 on chondrogenesis, firm data on pathogeneses are mostly lacking.…”

Section: Discussionmentioning

confidence: 99%

Etiology and pathogenesis of robin sequence in a large Dutch cohort

Basart

Paes

Maas

et al. 2015

American J of Med Genetics Pt A

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Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction/glossoptosis causing neonatal respiratory problems, with or without a cleft palate and either isolated or non-isolated. Pathogenesis varies widely. We hypothesize that optimal treatment depends on pathogenesis and therefore patients should be stratified according to diagnosis. Here, we evaluate diagnoses and (presumed) pathogeneses in an RS cohort. Medical records of all RS patients presenting between 1995-2013 in three academic hospitals were evaluated. Four clinical geneticists re-evaluated all information, including initial diagnosis. Diagnoses were either confirmed, considered uncertain, or rejected. If uncertain or rejected, patients were re-evaluated. Subsequent results were re-discussed and a final conclusion was drawn. We included 191 RS patients. After re-evaluation and changing initial diagnoses in 48 of the 191 patients (25.1%), 37.7% of the cohort had isolated RS, 8.9% a chromosome anomaly, 29.3% a Mendelian disorder, and 24.1% no detectable cause. Twenty-two different Mendelian disorders were diagnosed, of which Stickler syndrome was most frequent. Stratification of diagnoses according to (presumed) pathogenic mechanism in 73 non-isolated patients with reliable diagnoses showed 43.9% to have a connective tissue dysplasia, 5.5% a neuromuscular disorder, 47.9% a multisystem disorder, and 2.7% an unknown mechanism. We diagnosed more non-isolated RS patients compared to other studies. Re-evaluation changed initial diagnosis in a quarter of patients. We suggest standardized re-evaluation of all RS patients. Despite the relatively high diagnostic yield pathogenesis could be determined in only 59.7% (71/119), due to limited insight in pathogenesis in diagnosed entities. Further studies into pathogenesis of entities causing RS are indicated.

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Section: Discussionmentioning

confidence: 99%

Etiology and pathogenesis of robin sequence in a large Dutch cohort

Basart

Paes

Maas

et al. 2015

American J of Med Genetics Pt A

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“…Investigators have generally reported a 9% to 15% frequency of any kind of FND after MDO, though some studies have documented higher rates of this complication. 27,34,[37][38][39][40][41][42][43][44][45][46] Mudd and associates found an 8.4% total incidence of facial nerve palsy among their case series on 24 patients. 47 MDO and noted transient FND to have occurred but did not document it, suggesting overall FND likely exceeds this estimate.…”

Section: Frequency Of Fndmentioning

confidence: 97%

“…33 Some investigators have documented perioperative FND. 42,47,52,53 Among these were 2 case reports on 1 patient and 2 patients, in which 100% and 50% were found to have FND after device removal, respectively. 42,53 Studies by Hammoudeh et al on 29 patients found a 3.44% (n = 1) rate of FND arising in the perioperative period and Mudd similarly found a 4.2% rate of FND among a cohort of 24 arising in the perioperative period.…”

Section: Timing Of Fndmentioning

confidence: 99%

“…42,47,52,53 Among these were 2 case reports on 1 patient and 2 patients, in which 100% and 50% were found to have FND after device removal, respectively. 42,53 Studies by Hammoudeh et al on 29 patients found a 3.44% (n = 1) rate of FND arising in the perioperative period and Mudd similarly found a 4.2% rate of FND among a cohort of 24 arising in the perioperative period. 47,52 Small cohort sizes and low incidence of FND among the studies which did seek to document timing, in particular, limit the validity of FND timing after MDO.…”

Section: Timing Of Fndmentioning

confidence: 99%

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Timing and Duration of Facial Nerve Dysfunction After Mandibular Distraction Osteogenesis for Robin Sequence

Crowder

Mantilla-Rivas

Kapoor

et al. 2022

The Cleft Palate Craniofacial Journal

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Objective Collect data from craniofacial surgeons to analyze mandibular distraction osteogenesis (MDO) protocols, and facial nerve dysfunction (FND) to characterize this common, but poorly documented complication after MDO in infants with Robin Sequence (RS). Design, Setting, and Participants A 16-question anonymous survey designed through REDCap was digitally distributed to members of the American Cleft Palate-Craniofacial Association and International Society of Craniofacial Surgery (ISCFS). Main Outcome Measure(s) Demographic information, MDO perioperative variables, surgeon experience with FND after MDO for patients with RS, and the timing and duration of FND were analyzed. Results Eighty-four responses were collected, with 80 included for analysis. Almost two-thirds of respondent surgeons reported FND as a complication of MDO in patients with RS (51, 63.8%); 58.8% (n = 47) transient FND and 5% (n = 4) with permanent facial nerve palsy only. Both transient and permanent FND was documented by 13 (16.3%) respondents. Among respondents, FND was observed immediately following initial device placement/osteotomies in 45.1%, during distraction in 45.1%, during consolidation in 19.6%, and following device removal in 43.1%. Twenty-five of these respondent surgeons reported resolution of FND between 1 and 3 months (53.2%, n = 25). Conclusions FND after MDO in patients with RS was noted by most respondents in this survey study. While most surgeons noted temporary FND, one-fifth reported long-term dysfunction. FND was documented most commonly following device placement/osteotomies or during active distraction. Further research should seek to establish risk factors associated with FND and identify surgical and perioperative prevention strategies

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“…The severity of airway obstructions can be studied using PSG, and micrognathia can be objectively determined using 3D‐facial photogrammetry and laser scans, and the usability in RS is presently studied . To determine the presence and degree of glossoptosis, awake flexible fibre‐optic laryngoscopy (aFFL), performed by an otolaryngologist, is the most widely available diagnostic tool . This examination, however, can be technically difficult or even impossible, because of non‐cooperation of the newborn.…”

Section: Background and Objectivementioning

confidence: 99%