Mapping the Mandibular Lingula in Pierre Robin Sequence

Chen, Wendy; Davidson, Edward H.; MacIsaac, Zoe M.; Kumar, Anand

doi:10.1097/scs.0000000000001945

Cited by 11 publications

(22 citation statements)

References 49 publications

(61 reference statements)

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“…A Hotelling test again revealed that the ramus was the mandibular structure most affected by changes in Sox9 dosage ( Figure 6 N). Although milder, these alterations in mandibular ramus morphology are reminiscent of phenotypes observed in PRS patients, as quantified by a number of studies ( Bienstock et al., 2016 ; Chen et al., 2015 ; Chung et al., 2012 ; Suri et al., 2010 ; Susarla et al., 2017 ; Volk et al., 2020 ; Zellner et al., 2017 ; Table S4 ; Figure S6 C). Finally, to address whether enhancer knockout results in failure to thrive, we weighed pups up to weaning age (P20–P25) and detected a reduction in weight gain for mEC1.45 knockout animals ( Figure 6 O).…”

Section: Resultsmentioning

confidence: 89%

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

et al. 2020

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Summary Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a human stem cell differentiation model, we identify two clusters of enhancers within the PRS-associated region that regulate SOX9 expression during a restricted window of facial progenitor development at distances up to 1.45 Mb. Enhancers within the 1.45 Mb cluster exhibit highly synergistic activity that is dependent on the Coordinator motif. Using mouse models, we demonstrate that PRS phenotypic specificity arises from the convergence of two mechanisms: confinement of Sox9 dosage perturbation to developing facial structures through context-specific enhancer activity and heightened sensitivity of the lower jaw to Sox9 expression reduction. Overall, we characterize the longest-range human enhancers involved in congenital malformations, directly demonstrate that PRS is an enhanceropathy, and illustrate how small changes in gene expression can lead to morphological variation.

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Section: Resultsmentioning

confidence: 89%

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

et al. 2020

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“…25 These studies also have not all been specific to the young Pierre Robin patient and those that do have insufficient follow-up to verify the true safety of these procedures. 24,25 To the authors' knowledge, only Steinberg et al 26 has examined infant PRS mandibular distraction and included sufficient follow-up. However, their study examines 2 different techniques using 2 different osteotomies and 2 different vectors making it difficult to determine, which technique may be more associated with unfavorable sensory nerve outcomes.…”

Section: Discussionmentioning

confidence: 99%

Evaluating Sensory Nerve Outcomes After Horizontal Osteotomy for Mandibular Distraction in Infant Robin Sequence Patients

Denny

Klement

2021

Journal of Craniofacial Surgery

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There has yet to be a consensus on the appropriate technique for mandibular distraction in the infant Pierre Robin population nor is their sufficient data on sensory nerve outcomes. The purpose of this study is to validate the safety of the horizontal osteotomy by: (1) determining mandibular foramen location in infant Pierre Robin patients relative to the dentoalveolar plane and (2) evaluate long-term function of the inferior alveolar nerve in previously distracted Pierre Robin patients. Preoperative 3D Computed tomography (CT) scans of Pierre Robin patients < 1 year old were reviewed. A line at the level of the mandibular dentoalveolar plane was drawn across the lingual surface of the ramus and the distance to the mandibular foramen was then measured. Semmes-Weinstein monofilaments of the lower lip and chin bilaterally was performed on mandibular distraction patients in clinic. Inclusion criteria was patients >6 years of age having undergone bilateral mandibular distraction at <1 year of age. Fifteen patients' CT studies were examined. The mandibular foramen was consistently below the level of the dentoalveolar plane at an average distance of 4.7 mm. Eight patients were included in the prospective arm. Average age was 12.2. All patients had normal sensation at 2.83 through all areas. The mandibular foramen reliably exists below the dentoalveolar plane. In addition, all patients reviewed postoperatively with >10 years of follow up demonstrated normative sensation. The horizontal corticotomy performed just above the mandibular dentoalveolar plane spares the inferior alveolar nerve in young Pierre Robin patients undergoing distraction.

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“…Proponents of the inverted L cite the ability to make the vertical osteotomy away from the tooth roots and under direct visualization to avoid the inferior alveolar nerve. 22 This may be a reflection of training, as younger surgeons graduating from high volume academic centers may be inclined to utilize newer techniques.…”

Section: Discussionmentioning

confidence: 99%

Current Trends in Surgical Airway Management of Neonates with Robin Sequence

Fan

Mandelbaum

Buro

et al. 2018

Plastic and Reconstructive Surgery - Global Open

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Background:Robin sequence is defined by the clinical triad of micrognathia, glossoptosis, and upper airway obstruction, and is frequently associated with cleft palate and failure to thrive. Though the efficacy of certain surgical interventions to relieve airway obstruction has been well established, algorithms dictating decision making and perioperative protocols are poorly defined.Methods:A 22-question survey was sent via e-mail to members of the American Cleft Palate-Craniofacial Association and International Society of Craniofacial Surgeons. Questions were related to surgeon experience in treating neonates with Robin sequence, and specific perioperative protocols.Results:One hundred fifty-one responses were collected. Most respondents were surgeons practicing in North America(82.8%), in a university hospital setting (81.5%) and had completed a fellowship in pediatric plastic surgery or craniofacial surgery (76.2%). Preoperative protocols varied widely by years in training and location of practice. Although 78.8% of respondents always performed direct laryngoscopy, only 49.7% of respondents routinely obtained preoperative polysomnography. Mandibular distraction osteogenesis was the most common primary surgical airway intervention reported by 74.2%, with only 12.6% primarily utilizing tongue-lip adhesion. Slightly less than half of respondents ever performed tongue-lip adhesion. Operative selection was influenced by surgeon experience, with 80% of those in practice 0–5 years primarily utilizing mandibular distraction, compared with 56% of respondents in practice >15 years.Conclusions:This study documents wide variations in preoperative, operative, and postoperative protocols for the surgical airway management of neonates with severe Robin sequence. These results underscore the need to acquire more objective data, to compare different protocols and outcome measures.

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Mapping the Mandibular Lingula in Pierre Robin Sequence

Cited by 11 publications

References 49 publications

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

Evaluating Sensory Nerve Outcomes After Horizontal Osteotomy for Mandibular Distraction in Infant Robin Sequence Patients

Current Trends in Surgical Airway Management of Neonates with Robin Sequence

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