Outcomes Analysis of Mandibular Distraction Osteogenesis for the Treatment of Pierre Robin Sequence

Murage, Kariuki P.; Tholpady, Sunil S.; Friel, Michael T.; Havlik, Robert J.; Flores, Roberto L.

doi:10.1097/prs.0b013e3182958a54

Cited by 76 publications

(60 citation statements)

References 4 publications

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“…Work up and indication for distraction was based on a previously described, institutionally-derived protocol (Murage et al, 2013Flores et al, 2014). A multidisciplinary team with members from plastic surgery, neonatology, genetics, pulmonology, otolaryngology, and nursing participated in patient assessment and surgical indications.…”

Section: Methodsmentioning

confidence: 99%

Defining failure and its predictors in mandibular distraction for Robin sequence

Flores

Greathouse

Costa

et al. 2015

Journal of Cranio-Maxillofacial Surgery

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Section: Methodsmentioning

confidence: 99%

Defining failure and its predictors in mandibular distraction for Robin sequence

Flores

Greathouse

Costa

et al. 2015

Journal of Cranio-Maxillofacial Surgery

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“…3,6,7,13,15 Gastroesophageal reflux disease is a commonly associated condition with RS, and has been cited as a potential marker for more severe disease and worse outcomes. 8,15,[33][34] The etiology of GER in Robin sequence may be secondary to increased negative intrathoracic pressure, increased use of abdominal muscles, increased gastric pressure, the immaturity of the esophageal sphincter. Untreated GER may lead to irreversible damage to the respiratory system.…”

Section: Discussionmentioning

confidence: 99%

“…Mandibular Distraction Osteogenesis (MDO) has been demonstrated to be a safe 3,[11][12][13][14][15][16][17] and effective 3,6,8,12,13,[15][16][17] intervention to relieve airway obstruction in infants with severe RS.…”

Section: Discussionmentioning

confidence: 99%

“…Indication for MDO have been previously described. 8,19 Briefly, patients were initially treated with prone …”

Section: Treatment Protocolmentioning

confidence: 99%

“…[5][6][7][8] In many craniofacial centers, MDO is now the first line surgical intervention to treat severe RS in which conservative measures have been unsuccessful.…”

Section: Mandibular Distraction Osteogenesis (Mdo) Is a Standard Techmentioning

confidence: 99%

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Mandibular Distraction Osteogenesis in Low-Weight Neonates with Robin Sequence

Tahiri

Greathouse

Tholpady

et al. 2015

Plastic and Reconstructive Surgery

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Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

Gomez‐Ospina

Bernstein

2016

American J of Med Genetics Pt A

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Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an isolated finding or manifestation of multiple syndromes. 22q11.2 deletion and Stickler syndrome are cited as the two most common conditions associated with PRS, but their frequencies are debated. We performed a retrospective study of 66 patients with PRS and reviewed their genetic testing, diagnoses, and clinical findings. The case series is complemented by a comprehensive literature review of the nature and frequency of genetic diagnosis in PRS. In our cohort 65% of patients had associated anomalies; of these, a genetic diagnosis was established in 56%. Stickler syndrome was the most common diagnosis, comprising approximately 11% of all cases, followed by Treacher Collins syndrome (9%). The frequency of 22q11.2 deletion was 1.5%. Chromosome arrays, performed for 72% of idiopathic PRS with associated anomalies, revealed two cases of 18q22→qter deletion, a region not previously reported in association with PRS. A review of the cytogenetic anomalies identified in this population supports an association between the 4q33-qter, 17q24.3, 2q33.1, and 11q23 chromosomal loci and PRS. We found a low frequency of 22q11.2 deletion in PRS, suggesting it is less commonly implicated in this malformation. Our data also indicate a higher frequency of cytogenetic anomalies in PRS patients with associated anomalies, and a potential new link with the 18q22→qter locus. The present findings underscore the utility of chromosomal microarrays in cases of PRS with associated anomalies and suggest that delaying testing for apparently isolated cases should be considered.

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Outcomes Analysis of Mandibular Distraction Osteogenesis for the Treatment of Pierre Robin Sequence

Abstract: Therapeutic, IV.

Cited by 76 publications

References 4 publications

Defining failure and its predictors in mandibular distraction for Robin sequence

Defining failure and its predictors in mandibular distraction for Robin sequence

Mandibular Distraction Osteogenesis in Low-Weight Neonates with Robin Sequence

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

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