Abstract
Objective
To describe the spectrum of disease and burden of care in infants with congenital micrognathia from a multicenter cohort hospitalized at tertiary care centers.
Study Design
The Children’s Hospitals Neonatal Database was queried from 2010 through 2020 for infants diagnosed with micrognathia. Demographics, presence of genetic syndromes, and cleft status were summarized. Outcomes included death, length of hospitalization, neonatal surgery, and feeding and respiratory support at discharge.
Results
Analysis included 3236 infants with congenital micrognathia. Cleft palate was identified in 1266 (39.1%). A genetic syndrome associated with micrognathia was diagnosed during the neonatal hospitalization in 256 (7.9%). Median (interquartile range) length of hospitalization was 35 (16, 63) days. Death during the hospitalization (n=228, 6.8%) was associated with absence of cleft palate (4.4%, p<0.001) and maternal Black race (11.6%, p<0.001). During the neonatal hospitalization, 1289 (39.7%) underwent surgery to correct airway obstruction and 1059 (32.7%) underwent gastrostomy tube placement. At the time of discharge, 1035 (40.3%) were exclusively feeding orally. There was significant variability between centers related to length of stay and presence of a feeding tube at discharge (p<0.001 for both).
Conclusions
Infants hospitalized with congenital micrognathia have a significant burden of disease, commonly receive surgical intervention, and most often require tube feedings at hospital discharge. We identified disparities based on race and among centers. Development of evidence-based guidelines could improve neonatal care.
Keywords: micrognathia, robin sequence, cleft palate, mandibular distraction osteogenesis, tongue-lip adhesion
Congenital micrognathia is a malformation characterized by varying degrees of mandibular hypoplasia. Infants with moderate to severe micrognathia experience substantial morbidity, including feeding difficulty and upper airway obstruction, during the neonatal period and beyond (1). Robin sequence includes the subset of infants with micrognathia who also experience glossoptosis and airway obstruction, often in the setting of a U-shaped cleft palate (2). Some newborn infants with micrognathia will require immediate airway intervention, whereas others may be only mildly impacted (3).
Although micrognathia can be seen in isolation, it also occurs in combination with many other congenital anomalies. Genetic and environmental etiologies have been identified for both isolated micrognathia and micrognathia associated with other anomalies(4, 5). Micrognathia may occur as a result of mechanical constriction of growth (e.g., multiple gestation or oligohydramnios). Some genetic causes of micrognathia coincide with other congenital malformations that make diagnosis straightforward (eg, Treacher Collins syndrome) and others may be identified after targeted examinations (e.g., ophthalmologic examination in an infant with ocular form of Stickler syndrome). Infants with other genetic syndromes may appear to have isolated micrognathia at birth because the other features are not evident until later in childhood or adulthood (e.g., non-ocular forms of Stickler syndrome).
Many infants with moderate to severe congenital micrognathia are transferred to tertiary care neonatal intensive care units (NICUs) for multidisciplinary evaluation and management. However, as a relatively rare condition, most reports in the literature include small numbers of patients from a single center, often with a focus on management or genetic etiology (6, 7, 8). As a result, the full spectrum of congenital micrognathia is poorly understood. Guidelines for the management have been proposed (9) though substantial variability still exists between practice patterns with regard to surgical intervention, length of stay, and feeding modalities for infants with micrognathia (with and without Robin sequence) (10, 11).
We studied a large, multicenter cohort with an aim to describe the spectrum of disease in infants with congenital micrognathia. We hypothesized that many infants with micrognathia cared for in children’s hospital NICUs would require extended hospitalization, neonatal operations, and/or enteral tube feedings, significantly adding to their burden of care. We further hypothesized that there would be significant variability in management approaches between centers.
Methods
This retrospective study used data from the Children’s Hospitals Neonatal Database (CHND), a detailed neonatal-specific quality improvement dataset. The CHND includes data from infants admitted to level IV NICUs at children’s hospitals across North America participating in the Children’s Hospitals Neonatal Consortium (CHNC), a national collaborative that seeks to optimize clinical practice of newborns (12). CHND data are collected using standardized procedures by trained chart abstractors who undergo regular assessments to evaluate for inter-rater reliability (13).
The study included infants who were admitted to any of the 34 participating CHNC centers from 2010 through 2020. Infants who were identified as having micrognathia with or without Robin sequence were included. Exclusion criteria included surgery for airway obstruction prior to transfer to the CHNC center (n=20) or readmission (n=45). For infants who were transferred to another center during their hospitalization, route of feeding and respiratory support at the time of discharge were not available, so these participants were excluded from those analyses. The Institutional Review Board (IRB) at each participating institution approved participation in CHND and associated research studies, including ethical analysis of a deidentified data set.
Predictor variables were demographic data including sex (assigned prior to hospital discharge), maternal race and ethnicity, prematurity, birth weight and head circumference, presence of airway surgery, and syndrome and cleft palate status. Variability in outcomes among centers was assessed to identify targets for future intervention studies. Outcome variables included length of stay, death, surgical intervention including mandibular distraction osteogenesis, tongue-lip adhesion, tracheostomy, and gastrostomy tube, as well as feeding and respiratory support at discharge.
Statistical analysis
Analysis was conducted with Stata version 15 (StataCorp, College Station TX) with two-sided tests of hypotheses and a p-value < 0.05 as the criterion for statistical significance. Descriptive analyses included computation of medians and ranges of continuous variables and tabulation of categorical variables. Tests of normal distribution were performed to determine the extent of skewness of variables. Frequency counts and percentages were used to describe categorical variables. One-way analysis of variance (ANOVA) was conducted to report means, comparisons and statistical significance. After assessing parametric distribution, Kruskal-Wallis equality of proportions rank tests were used to examine medians and interquartile ranges (IQR) on variables with evidence of skew. Dunn’s tests were applied as post-hoc corrections for the three groups following rejection of the null hypothesis in a Kruskal-Wallis test. We performed multivariable regression analyses to evaluate the contribution of the following covariates on the outcome variables: sex, gestational age, birth weight, birth head circumference, Black race, Hispanic ethnicity, Apgar 5-minute score, and cleft palate status. Inclusion of these covariates was motivated by both established medical literature highlighting their potential relevance to neonatal outcomes and the need to control for these key factors to rigorously assess the influence of our primary variables of interest. To examine the relationship between length of stay and the use of nasogastric tubes and supplemental oxygen by different centers, we incorporated interaction effects in the analysis. This approach assesses whether discharging patients with feeding tubes and supplemental oxygen exerted a discernible influence on length of stay. The inclusion of interaction effects serves to uncover potential variations in length of stay attributed to the interplay between discharge practices and hospital-specific factors. Interaction terms were also employed to assess the associations between outcomes and some covariates – birth weight, gestational age, and presence of underlying genetic syndromes – for infants with Black and White maternal race. The interaction terms allow the detection of variations in these associations between infants with Black and White maternal race.
Results
There were 3236 infants with a diagnosis of micrognathia included in the analysis (Table I). This represented 1.5% of the total CHND population (n=215,762 total) during the study period. There was a modest male predominance, similar to the total CHND (43.1% female). Most infants with micrognathia were born at term, with mean birth weight and head circumference in the 10th–25th percentile. Maternal ethnicity (15.3% Hispanic) reflected the total CHND (15.9%). Black maternal race was less prevalent (10.8%) in the micrognathia cohort and White race more prevalent (68.8%) than the total CHND (20.0% and 59.3%, respectively). Cleft palate was observed in 1266 (39.1%) of infants with micrognathia, and a genetic syndrome associated with micrognathia was diagnosed prior to hospital discharge in 250 (7.7%) of infants in the cohort. The most common micrognathia-associated conditions included Stickler syndrome (n=88 infants, 2.7%), Treacher Collins syndrome (n=38 infants, 1.2%), and 22q11.2 deletion syndrome (n=35; 1.1%).
Table 1:
Demographics.
| Category | Variable | Total cohort | Infants who had surgery for airway obstruction | Infants who had no airway obstruction surgery | |
|---|---|---|---|---|---|
| Birth data | n | 3236 | 1289 | 1947 | |
| Female | 1453 (44.9) | 608 (47.2) | 845 (42.3) | 0.080 | |
| Gestational age, weeks | 38 (36, 39) | 38 (36, 39) | 38 (36, 39) | 0.218 | |
| Birth weight, g | 2820 (2252, 3300) | 2897 (2305, 3344) | 2775 (2220, 3261) | 0.003 | |
| Birth head circumference | 33.5 (31.5, 35) | 33.5 (32, 35) | 33 (31.5, 35) | 0.002 | |
| 5-minute APGAR scores | 8 (7, 9) | 8 (7, 9) | 8 (7, 9) | 0.733 | |
| Maternal race and ethnicity | Maternal race | 0.055 | |||
| Asian | 96 (3) | 35 (2.7) | 61 (3.1) | ||
| Asian and Pacific Islander | 7 (0.2) | 2 (0.2) | 5 (0.3) | ||
| Black | 350 (10.8) | 150 (11.6) | 200 (10.3) | ||
| Native American or Alaskan Native | 7 (0.2) | 3 (0.2) | 4 (0.2) | ||
| Native Hawaiian or Pacific Islander | 11 (0.3) | 4 (0.3) | 7 (0.4) | ||
| Other | 298 (9.2) | 139 (10.8) | 159 (8.2) | ||
| Unknown | 244 (7.5) | 79 (6.1) | 165 (8.5) | ||
| White | 2223 (68.7) | 877 (68) | 1346 (69.1) | ||
| Hispanic ethnicity | 494 (15.3) | 219 (17.0) | 275 (14.1) | 0.027 | |
| Cleft status | Cleft lip and palate | 112 (3.5) | 48 (3.7) | 64 (3.3) | 0.506 |
| Cleft palate | 1266 (39.1) | 721 (55.9) | 545 (28.0) | <0.001 | |
| Cleft lip | 46 (1.4) | 22 (1.7) | 24 (1.2) | 0.265 | |
| Underlying syndrome* | Stickler syndrome | 88 (2.7) | 70 (5.4) | 18 (0.9) | <0.001 |
| Treacher Collins syndrome | 38 (1.2) | 28 (2.2) | 10 (0.5) | <0.001 | |
| 22q11 deletion syndrome | 35 (1.1) | 9 (0.7) | 26 (1.3) | 0.086 | |
| Goldenhar syndrome | 28 (0.9) | 16 (1.2) | 12 (0.6) | 0.060 | |
| CHARGE syndrome | 23 (0.7) | 9 (0.7) | 14 (0.7) | 0.945 | |
| Cornelia de Lange syndrome | 13 (0.4) | 6 (0.5) | 7 (0.4) | 0.641 | |
| Mobius sequence | 11 (0.3) | 3 (0.2) | 8 (0.4) | 0.394 | |
| Campomyelic dysplasia | 8 (0.2) | 4 (0.31) | 4 (0.2) | 0.556 | |
| Emanuel syndrome | 4 (0.1) | 3 (0.2) | 1 (0.1) | 0.308 | |
| Nager syndrome | 4 (0.1) | 3 (0.2) | 1 (0.1) | 0.308 |
Results are n (%) or median (interquartile range).
Hospital length of stay was highly variable, with median (interquartile range) of 35 (16, 63) days, (Table II). Infants who underwent surgery for upper airway obstruction during the hospitalization had a significantly longer length of stay, 56 (36, 92) days, compared with those who did not, 22 (10, 42) days. Surgical intervention was common among infants in the cohort, many of whom may have been transferred to referral centers for surgical evaluation. Interventions included mandibular distraction osteogenesis (26.4%) and tongue-lip adhesion (3.3). Of the tongue-lip adhesion group, 13/107 subsequently required mandibular distraction. Tracheostomy was required in (11.2%) of infants, including 36 who were initially treated with mandibular distraction or tongue-lip adhesion. Supplemental oxygen at discharge was used for 19.8% of patients and 6.1% were discharged with positive pressure either non-invasively or via tracheostomy.
Table 2:
Key outcomes.
| Category | Variable | Total (n=3,236) |
Airway surgery (n=1,289) |
No airway surgery (n= 1,947) |
p-value |
|---|---|---|---|---|---|
| Hospital length of stay; days*: median (interquartile range) | 35 (16, 63) | 56 (36, 92) | 22 (10, 42) | <0.001 | |
| Died during hospitalization | 223 (6.9) | 28 (2.2) | 195 (10.0) | <0.001 | |
| Cause of death | Cause of death | 0.845 | |||
| Anomaly or syndrome | 62 (27.8) | 5 (17.9) | 57 (29.2) | ||
| Respiratory failure | 26 (11.7) | 1 (3.6) | 25 (12.8) | ||
| Central nervous system injury | 4 (1.8) | 1 (3.6) | 3 (1.5) | ||
| Gastrointestial/intra-abdominal catastrophe | 3 (1.3) | 0 | 3 (1.5) | ||
| Multi-organ system failure | 3 (1.3) | 0 | 3 (1.5) | ||
| Inborn error of metabolism | 2 (0.9) | 0 | 2 (1.0) | ||
| Infection | 2 (0.9) | 0 | 2 (1.0) | ||
| Severe biventricular dysfunction | 1 (0.4) | 0 | 1 (0.5) | ||
| Not specified | 120 (53.8) | 21 (75.0) | 99 (50.7) | ||
| Key surgery interventions | Mandibular distraction osteogenesis | 854 (26.4) | |||
| Tongue-lip adhesion | 107 (3.3) | ||||
| Tracheostomy | 328 (10.14) | ||||
| Gastrostomy tube | 1059 (32.7) | 552 (42.8) | 507 (26.0) | <0.001 | |
| Discharge support | Positive airway pressure* | 157 (6.1) | 115 (10.6) | 42 (2.8) | 0.001 |
| Cardiorespiratory monitor* | 1,188 (46.2) | 529 (48.7) | 659 (44.4) | 0.070 | |
| Supplemental oxygen* | 510 (19.8) | 192 (17.7) | 318 (21.4) | 0.013 | |
| Feeding exclusively orally* | 1035 (40.3)* | 328 (30.2) | 707 (47.7) | <0.001 | |
| Subspecialty follow-up | Surgery: otolaryngology, plastic surgery, craniofacial/cleft clinic | 1178 (55.6) | |||
| NICU Developmental follow-up | 437 (20.6) | ||||
| Speech Therapy | 327 (15.4) | ||||
| Pulmonology | 313 (4.8) |
Values are in n (%) unless otherwise stated.
Indicates the denominator is the 2,570 infants who survived and where full discharge data were available.
At the time of discharge, 40.3% of infants were feeding exclusively orally, with the remainder requiring at least a portion of feeds through either nasogastric tube or a gastrostomy tube (32.7%). Cardiorespiratory monitors were sent home with 1,188 (46.2%) of infants at discharge. Most patients were referred for subspecialty follow-up at discharge, including more than half with craniofacial surgery and a high proportion with a neonatal follow-up program and/or speech therapy.
223 infants (6.9%) died during the neonatal period. The categorical cause of death was available for 103 (46.2%). The most common cause of death listed were complications associated with the patient’s underlying genetic syndrome, followed by respiratory failure. The mortality rate for infants with Black maternal race (42/350, 12%) was nearly double that of infants with all other maternal races combined (169/2886, 5.9%, p<0.001). Mortality was significantly lower for those with cleft palate (61/1378, 4.4%) versus intact palate (148/1858, 8.0%, p<0.001). Infants with cleft palate were also more likely to have a higher incidence of underlying genetic syndromes (9.4% versus 6.5%, respectively, p=0.003). There was no difference in mortality based on sex (females 5.5% vs. males 7.2%, p=0.13). Infants who died prior to hospital discharge had a significantly lower birth weight (2231.1 ± 732.6 g) than those who survived (2795.8 ± 752.2 g, p<0.001). Gestational age was also lower in those who died than those who survived (35.5 ± 3.2 weeks vs. 37.3 ± 2.7 weeks, p<0.001). Of the 1294 infants who had surgery for upper airway obstruction, 24 (1.9%) died prior to hospital discharge. There were strong associations between prematurity and all the key outcomes (death, hospital length of stay, and feeding tube at discharge) in bivariate analysis, but after adding other variables, no association was found to be significant. The presence of an identified syndrome had significant associations that persisted after adjustment with covariables, including longer length of stay (8.5 more days, p=0.05) and 27.4% increase in log odds of being sent home with a feeding tube (p<0.001). There were also associations between some of the key outcome variables. Both discharge with tube feedings and discharge with oxygen support were associated with hospital length of stay. Having a feeding tube at discharge was associated with 12 additional days in the hospital (p<0.001), whereas having oxygen support at discharge was associated with 9 more days in the hospital (p<0.001). Interacting race with multiple covariates of interest did not reveal statistically significant findings. As a result, we did not observe substantial variations in the associations between birth weight, gestational age, genetic syndromes, and our outcomes based on Black maternal race. The lack of significance in the interaction effects suggests that, within the scope of our study, these covariates did not display differential influences on the outcomes based on race.
Inter-center Variability
Length of stay in the NICU was highly variable between centers, ranging from an average of 14.4 – 68.4 days (IQR: 33.1,49.0, p<0.001, Figure 1). There were significant differences between centers in the proportion of patients who were discharged with nasal feeding tubes (p<0.001) and gastrostomy tubes (p<0.001). Analyses exploring potential interactions did not provide substantial evidence supporting a significant relationship between these hospital practices and length of stay. None of the interaction terms or hospital coefficients achieved statistical significance, so the hospital-specific discharge practices did not emerge as significant predictors of length of stay.
Figure 1. Length of NICU stay at each CHNC center.
Bars represent median and whiskers represent 95% confidence interval (not shown in centers with fewer than 10 patients).
Discussion
In this study of 3236 infants with micrognathia cared for at 34 North American tertiary-care neonatal intensive care units, we described significant neonatal morbidity, including prolonged hospitalization, the need for neonatal surgery, and feeding difficulties. Neonatal and infant mortality were significant and associated with racial disparities. In addition, we identified significant variability in the management of infants with micrognathia across centers, presenting the opportunity for standardization to optimize care.
The demographic data in our study were similar to the entire CHND with respect to sex and ethnicity, but there was a significantly greater proportion of White infants and lower proportion of Black infants compared with the total CHND. Whether this represents a true difference in racial prevalence of micrognathia versus disparities in diagnosis or access to care requires further exploration. There was a slight male predominance in our cohort, but others have found either an equal distribution or slightly more females than males (14, 15, 16, 17, 18, 19). This difference may reflect the larger size of our cohort and its more inclusive nature rather than others that have included specific syndromes rather than a broader group of infants with micrognathia. Race and ethnicity have largely been absent in previous reports of infants with Robin sequence, and the twofold increase in mortality rate among infants whose mothers were Black compared with other races combined should be further explored.
As the diagnosis of congenital micrognathia is based on clinical observation and the condition includes a heterogenous group of patients, the proportion of infants with underlying syndromes and incidence of cleft palate is highly variable across the literature, with most other cohorts including 2/3 or more with cleft palate (5, 17, 18, 19). One study that included 295 patients with micrognathia from two tertiary care centers found cleft palate in 81.9%, with a significantly greater proportion seen in those with isolated Robin sequence and Stickler syndrome than those with other syndromes (1). As in our cohort, Stickler syndrome is consistently reported as the syndrome with the highest frequency among infants with micrognathia or Robin sequence. Although several other studies including 50–120 infants have reported 13–18% having Stickler syndrome (15, 17, 18, 19), our cohort includes only 2.8%. This is likely because the CHND only includes data until initial discharge from the hospital, whereas other cohorts have included results of testing performed later in infancy. Moreover, the diagnosis of Stickler syndrome requires either formal ophthalmologic examination or genetic testing, both of which are often deferred to the outpatient setting. Even when genetic samples are sent for analysis in the inpatient setting, results are typically obtained after discharge and would not be available in the CHND. Finally, though individuals with Stickler syndrome do eventually develop additional sequelae, they are not typically evident at birth. This in in contrast to Treacher Collins syndrome, which is readily recognizable, and a clinical diagnosis can often be made in the delivery room. For infants with Treacher Collins syndrome, the syndrome is so easily recognized clinically that many geneticists would not have ordered genetic testing during the study period. Microarrays now are routinely sent prenatally or shortly after delivery for infants with micrognathia, but this was not the case during much of the ascertainment period for this study. Therefore, it is likely that the prevalence of different genetic syndromes is lower than the true prevalence and is likely much lower earlier in the study period and for genetic syndromes that are not typically diagnosed from clinical features alone. The proportion of underlying syndromes among patients with Robin sequence is variable in part due to lack of standardization in the literature regarding the definition of micrognathia itself (20). As our study included all infants who were clinically found to have micrognathia, it may have been more inclusive, resulting in this difference.
We observed significant morbidity and mortality. Approximately 40% of the infants required corrective airway surgery during their neonatal hospitalization, including >11% with tracheostomy placement, and >25% with respiratory support at discharge. Approximately one-third underwent gastrostomy tube placement, and a majority of the cohort required some type of tube feeds at the time of discharge. Median length of stay was significant at 35 days and was more than three weeks even for those who did not undergo airway surgery. The morbidity in our cohort was substantially greater than a recently published study of 276 infants in the Kids’ Inpatient Database with Robin sequence(21). In that cohort, median length of stay was 26.5 days, 17.4% required gastrostomy tube placement, and mortality was 1.1%. Differences may reflect that only infants who underwent mandibular distraction osteogenesis were included, as were older infants, some of whom may have been re-admitted for surgical intervention, and those at lower-acuity centers. There was significant mortality in the cohort, but very few of the patients who underwent surgery died. There appear to be significant racial disparities in mortality for these hospitalized infants with micrognathia that should be validated through other multicenter databases.
One of the most robust findings was that presence of cleft palate was protective against mortality. This finding is consistent with a prior report by Wenger et al (1). In that cohort of 295 patients with Robin sequence across two centers, the presence and morphology of cleft palate was evaluated in relation to genetic etiology and mortality. Different palate morphologies have different underlying cause, with U-shaped cleft palates occurring because of micrognathia causing the fetal tongue to obstruct the fusion of the palatal shelves. These typically do not extend through the alveolus and lip (22). V-shaped cleft palates are typically caused by a primary failure of continuity between the palatal shelves, and frequently include clefting of the lip and alveolus. In the Wenger et al cohort (1), U-shaped cleft palates were most often seen in infants with isolated Robin sequence or Stickler syndrome, who were typically hospitalized because of complications of micrognathia alone. U-shaped cleft palates were uncommon in infants who died, whereas intact palates and other morphologies of cleft palate (e.g., cleft lip and palate, V-shaped cleft palate, submucous cleft palate) were more commonly associated with mortality. Deaths in the Wenger et al cohort were due to complications of an underlying genetic syndrome of which micrognathia was only one feature. The CHND does not collect data on U-shaped vs. V-shaped cleft palates, so those infants would have both been represented in our cohort of children with cleft palate. However, even with inclusion of children with V-shaped cleft palates in the cleft palate group, the finding of intact palate was independently associated with a higher risk of mortality. As in the Wenger et al study, the most common cause of death in our cohort was complications of underlying genetic syndrome.
In our cohort, a high proportion of infants underwent surgery to relieve airway compromise, most often mandibular distraction osteogenesis followed by tracheostomy and tongue-lip adhesion. Most prior studies either report on a single surgical technique or are historical comparisons at single institutions, limiting comparison. However, one prospective study of 28 patients with Robin sequence during the same timeframe as data collection for our cohort reported a higher proportion of patients who underwent mandibular distraction osteogenesis (35.7%) and tongue-lip adhesion (28.6%), but none who underwent tracheostomy (23). Although multicenter, our cohort included only tertiary-care referral centers, and patients may have been transferred for surgical intervention. A large portion of our cohort required post-discharge tube feedings. Other studies of patients with micrognathia had a higher proportion with full oral feeds, but these other cohorts typically were limited to surgical cohorts that had much longer follow-up time, whereas our dataset was limited to the initial hospitalization (24).
Our study also found significant differences between centers in primary outcomes including length of stay, gastrostomy tube placement, and feeding support at discharge. Reasons for this variability may involve different referral patterns to these level IV NICUs, surgical and subspecialty personnel, local and regional differences in insurance providers, hospital policies, and other factors. Availability of home nursing also varies significantly by region and could impact length of stay for children requiring home-nursing after discharge. These findings highlight an opportunity to develop best-practice guidelines to reduce length of stay and provide improved care.
Strengths of this study include the large number of patients, involvement of centers with wide geographic range across North America, and a detailed, standardized data collection process ensuring consistency across collection sites. However, several limitations should be acknowledged. Due to lack of a confirmatory diagnostic test, micrognathia was a clinical diagnosis made at each participating center over a 10-year time span. There may also be some degree of diagnostic uncertainty due to the subjective nature of micrognathia diagnosis and variable experience between treating providers. Due to reliance on individual clinical teams across many centers, it was not possible to verify some outcomes, such as cleft palate status directly. Our cohort likely represents the “real-world” clinical impression captured via documentation in the record. Additionally, these results likely under-represent genetic syndromes as some genetic testing may completed subsequent to hospital discharge. As the CHNC is comprised of tertiary-care referral centers, the cohort does not include infants from smaller community-based hospitals or those who were managed as outpatients, so this cohort likely reflects a more complex phenotype. Finally, the dataset was limited in that it did not include detailed clinical data such as polysomnography, imaging data, or details regarding cost or socioeconomic status of families.
Future studies should include long-term outcomes in infants with micrognathia to better identify how care in the neonatal period influences health outcomes later in infancy and childhood. More comprehensive outcome data can support a stronger rationalization for evidence-based practices and a reduction in the variability of care. Multi-center collaborations are needed to include more detailed phenotypic data not available in the CHND. Further research is needed to identify factors that may contribute to the disparity in mortality among infants with micrognathia born to Black mothers.
Supplementary Material
Acknowledgments
Supported by the National Institutes of Health (grant number K23 HL135346 [to CC]).
Abbreviations
- CHNC
Children’s Hospitals Neonatal Consortium
- CHND
Children’s Hospitals Neonatal Database
- MDO
mandibular distraction osteogenesis
- NICU
neonatal intensive care unit
- TLA
tongue-lip adhesion
Footnotes
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Preliminary data from this manuscript were presented at the Pediatric Academic Societies 2022 meeting.
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