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Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review

Breik O, Tivey D, Umapathysivam K, Anderson P

Int J Oral Maxillofac Surg, 2016 Jun;45(6):769-82.
PMID: 26867668 DOI: 10.1016/j.ijom.2016.01.009

Mandibular distraction osteogenesis (MDO) is increasingly used for neonates and infants with upper airway obstruction secondary to micrognathia. This systematic review was conducted to determine the effectiveness of MDO in the treatment of airway obstruction. The databases searched included PubMed, Embase, Scopus, and grey literature sources. The inclusion criteria were applied to identify studies in children with clinical evidence of micrognathia/Pierre Robin sequence (PRS) who had failed conservative treatments, including both syndromic and non-syndromic patients. Overall 66 studies were included in this review. Primary MDO for the relief of upper airway obstruction was found to be successful at preventing tracheostomy in 95% of cases. Syndromic patients were found to have a four times greater odds of failure compared to those with isolated PRS. The most common causes of failure were previously undiagnosed lower airway obstruction, central apnoea, undiagnosed neurological abnormalities, and the presence of additional cardiovascular co-morbidities. MDO was less effective (81% success rate) at facilitating decannulation of tracheostomy-dependent children (P<0.0001). Failure in these patients was most commonly due to severe preoperative gastro-oesophageal reflux disease, swallowing dysfunction, and tracheostomy-related complications. The failure rate was higher when MDO was performed at an age of ≥24 months. More studies are needed to evaluate the long-term implications of MDO on facial development and long-term complications.

Matched MeSH terms: Micrognathism/complications; Micrognathism/surgery*
Feeding and reflux in children after mandibular distraction osteogenesis for micrognathia: A systematic review

Breik O, Umapathysivam K, Tivey D, Anderson P

Int J Pediatr Otorhinolaryngol, 2016 Jun;85:128-35.
PMID: 27240511 DOI: 10.1016/j.ijporl.2016.03.033

Mandibular distraction osteogenesis (MDO) is becoming increasingly more commonly used as in neonates and infants with upper airway obstruction secondary to micrognathia. A significant number of these children are dependent on nasoenteric feeding or gastrostomies after birth for adequate nutrition and often suffer from gastro-esophageal reflux (GERD).
OBJECTIVE: This analysis is a subset of a larger systematic review. The objective of this study is to determine the effects of MDO on feeding and GERD.
DATA SOURCES: The databases searched included PubMed, Embase, Scopus, Web of Knowledge and grey literature sources.
STUDY SELECTION: The inclusion criterion included studies in children with clinical evidence of micrognathia/Pierre Robin Sequence (PRS) who have failed conservative treatments, including both syndromic (sMicro) and non-syndromic (iPRS) patients. 21 studies relevant to feeding and 4 studies relevant to GERD outcomes were included. All studies included were case series and case reports.
RESULTS: MDO leads to a significant improvement in feeding, with 82% of children feeding exclusively orally after surgery. The overall percentage of children with iPRS who were feeding orally was 93.7% compared with only 72.9% in the sMicro group (p<0.004). A growth decline within the first six weeks after surgery was observed in multiple studies. Overall, out of 70 patients with pre-operative GERD, only four had evidence of GERD after surgery.
CONCLUSIONS: Considering the limitations of this systematic review, this study found that successful relief of airway obstruction by MDO leads to improvement of feeding and improvement in symptoms of GERD in children with upper airway obstruction secondary to micrognathia. Clinicians need to be aware of the risk of growth decline in the initial post-operative period.

Matched MeSH terms: Micrognathism/complications; Micrognathism/surgery*
Femoral-facial syndrome

Samuel, K.F., Rasat, R.

Malaysian Journal of Paediatrics and Child Health, 1998;10(2):59-61.
MyJurnal

A Malay baby boy with the femoral-facial syndrome is presented. The phenotype included bilateral femoral hypoplasia, short nose with a broad nasal tip, long philtrum with a thin upper lip, micrognathia, bilateral cryptorchidism and hypoplastic penis.

Matched MeSH terms: Micrognathism
Fulltext Mandibular advancement by distraction Osteogenesis for obstructive sleep apnea in patient with Pierre Robin Sequence: a case report

Mohamed Hisham Mohamed Jali @ Yunos, Shaifulizan Abdul Rahman, Ramizu Shaari

International Medical Journal Malaysia, 2017;16(21):28-28.
MyJurnal

Pierre Robin Sequence (PRS) is a condition consists of set of anomalies, which are
cleft palate, micrognathia and glossoptopsis. Management of patients with PRS addresses two main
problems, namely airway obstruction and feeding difficulties. Airway obstruction may lead to
obstructive sleep apnea (OSA). Treatment modalities for OSA are based on the causes. There are
surgical and non-surgical methods. Non-surgical methods such as diet, medication, oral appliances
and continuous positive airway pressure (CPAP) can only be employed in moderate cases. Surgical
method such as maxillo-mandibular advancement or expansion can be achieved by orthognathic
surgery or distraction osteogenesis. (Copied from article).

Matched MeSH terms: Micrognathism
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, et al.

J Hum Genet, 2019 Dec;64(12):1173-1186.
PMID: 31530938 DOI: 10.1038/s10038-019-0667-4

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.

Matched MeSH terms: Micrognathism/genetics*