Link to Normal Mandible
MICROGNATHIA /
RETROGNATHIA
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Fetuses
with mandible anomalies are at risk of acute neonatal respiratory distress
syndrome. This is a neonatal emergency since the tongue may obstruct the upper
airways and lead to suffocation
Retrognathia (recession of the chin) is assessed through the measurement
of the inferior facial angle, as defined on a mid-sagittal view
Micrognathia (mandible of insufficient size) is a malformation of the
fetal face characterized by a small mandible. Micrognathia may be idiopathic
but is more commonly associated with many different syndromes.
Micrognathia
refers to size, and retrognathia to position
(2).
- The diagnosis depends on a favorable
fetal position to assess the relationship between the mandible and rest of
the fetal face.
- Small mandible and
receding chin.
- Lower lip of the fetus
is not directly under the upper lip.
- Normal measurements
for the mandible are reported.
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Normal Coronal Plane
In the coronal plane the echogenic anterior tip of the
mandible should normally be seen in the same plane as the lips.
In retrognathia the echogenic tip is not seen in this
plane.
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- The Jaw Index.
- Inferior Facial Angle – An inferior facial angle value below 49.2°
(mean - 2 standard deviations) defined retrognathism.
- The Mandibular width /Maxillary width ratio was
constant between 18 and 28 gestational weeks (regression line, P =
0.8). The mean value of the MD/MX ratio in the 18-28-gestational-week
interval was 1.017 (SD = 0.116). Consequently, a MD/MX ratio
< 0.785 defined micrognathism
- Careful search for other
abnormalities including cardiac and skeletal dysplasias.
- Evaluate the fetal ears
(Treacher Collins / Goldenhar syndrome).
- High frequency of
polyhydramnios (? swallowing difficulties).
- Ask for a maternal history of
drug exposure.
- Ask if there is any history
of familial syndromes.
- Karyotyping is recommended
(chromosomal anomalies in 66% (1).
ANOMALIES ASSOCIATED WITH MICROGNATHIA
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Link to
Anomalies Associated With Micrognathia
- Nicolaides KH, Salvesen DR,
Snijders RJM et.al. Micrognathia fetal facial defects: Associated malformations
and chromosomal abnormalities. Fetal Diagn Ther 1993;8:1-9.
- Cohen
MM Jr. Robin sequences and complexes: causal heterogeneity and
pathogenic/phenotypic variability. Am J Med Gen 1999; 84:
311-5