Normal mandibular growth and diagnosis of micrognathia at prenatal MRI

Nemec, Ursula; Nemec, Stefan F.; Brugger, Peter C.; Weber, Michael; Bartsch, Bernhard; Bettelheim, Dieter; Gruber, M.; Prayer, Daniela

doi:10.1002/pd.4496

Cited by 45 publications

(51 citation statements)

References 33 publications

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“…1,2 The formation of the fetal mandible is a complex process where developmental anomalies occur infrequently. This fusion of tissues is governed by intricate interactions involving the branchial arches of the ectoderm and the cranial neural crest cells arising from the dorsal neural tube.…”

Section: Introductionmentioning

confidence: 99%

“…One such anomaly is micrognathia, a condition defined by the presence of a small, abnormally positioned mandible that has a incidence of 1:1000 births. [1][2][3][7][8][9] Micrognathia can be also be associated with congenital heart disease and musculoskeletal malformations. [3][4][5] True micrognathia is believed to be the result of hypoplasia of cells of the neural crest.…”

Section: Introductionmentioning

confidence: 99%

“…2 In the previous literature, micrognathia has been employed as an umbrella term, which also included the rarer, but separate, condition of retrognathia, characterised by a posteriorly displaced but relatively normal length mandible, which has far fewer adverse neonatal implications than true micrognathia. 2,3,10 Beyond these syndromic associations, there are neonatal implications of the undersized jaw. It can be an isolated issue, but more commonly is found as a component in over 100 genetic or chromosomal syndromes.…”

Section: Introductionmentioning

confidence: 99%

“…2,3,10 Beyond these syndromic associations, there are neonatal implications of the undersized jaw. [1][2][3]15 A study performed by Rotten et al in 2002 found a diagnosis of micrognathia could be made when the inferior facial angle was less than 49.2°, 3 a finding recently supported using prenatal MRI. 3,4,10,11 The undersized jaw may also affect nipple attachment, resulting in malnourishment and failure to thrive.…”

Section: Introductionmentioning

confidence: 99%

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Construction of fetal inferior facial angle and hemi‐mandible length reference ranges at 18–21 weeks’ gestation in an Australian population

Qiu

MacKinlay

Suen

et al. 2017

Australas J Ultrason Med

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Objective: The aim of this pilot study was to provide modern reference intervals for both inferior facial angle and hemi-mandible length in fetuses of 18-21 weeks' gestation. Methods: Prospectively, 296 apparently normal fetuses were sonographically assessed at 18-21 weeks' gestation. Inferior facial angle and hemi-mandible length were measured and parametrically analysed with respect to gestational age. Regression models were derived for each parameter and compared with models of previous studies. Results: The mean inferior facial angle remained constant over the studied gestational age range at 63.9°, with 5th and 95th percentiles of 56.6°and 73.4°, respectively. Hemi-mandible length was found to be positively correlated with gestational age over the studied range, and the mean value is described by the equation 40.89 mm -(6327.495 9 GA À2 ) with a standard deviation of 1.231 mm. Conclusion: Modern reference intervals for inferior facial angle and hemi-mandible length were defined within this pilot study. These reference intervals will aid in improving accuracy diagnosing micrognathia and our ability to differentiate true micrognathia from retrognathia.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Construction of fetal inferior facial angle and hemi‐mandible length reference ranges at 18–21 weeks’ gestation in an Australian population

Qiu

MacKinlay

Suen

et al. 2017

Australas J Ultrason Med

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show abstract

“…Recently, Nemec et al [24] performed a retrospective study that aimed to diagnose micrognathia with magnetic resonance imaging (MRI) using previously established ultrasound diagnostic criteria. This study compared the MRI findings of 355 fetuses without facial abnormalities seen on ultrasound to 10 fetuses with postnatal or autopsy-confirmed mandibular abnormalities.…”

Section: Micrognathiamentioning

confidence: 99%

Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future

Kaufman¹,

Cassady

Hyman³

et al. 2015

Fetal Diagn Ther

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Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.

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Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

Wu,

Han,

Duan

et al. 2024

J of Ultrasound Medicine

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ObjectiveTo prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening.MethodsBetween January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes.ResultsUltrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non‐isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow‐up.ConclusionIFA is a useful indicator and three‐dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.

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Normal mandibular growth and diagnosis of micrognathia at prenatal MRI

Abstract: Subjective identification of micrognathia may be limited. Reference data provide quantitative evaluation of mandibular size and position. An IFA <50° reflects micrognathia or retrognathia; a jaw index less than the fifth percentile suggests micrognathia.

Cited by 45 publications

References 33 publications

Construction of fetal inferior facial angle and hemi‐mandible length reference ranges at 18–21 weeks’ gestation in an Australian population

Construction of fetal inferior facial angle and hemi‐mandible length reference ranges at 18–21 weeks’ gestation in an Australian population

Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future

Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

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