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Radiology
Pierre Robin Sequence
Built from Obstetric Imaging
What’s inside
10 sections · 72 slides
Overview
- Scope of this presentation
The condition
What Pierre Robin sequence is, and why it is called a sequence
- Definition of Pierre Robin sequence
- Sequence versus syndrome
- Development of the sequence
- The U-shaped cleft palate
- Isolated versus syndromic disease
- Isolated Pierre Robin sequence
Prevalence and prenatal detection
How often it happens, and how often it is found before birth
- 1:8500
- Prenatal detection rates
- 7%
Causes
Mechanical restriction, chromosomes, genes and drug exposures
- Mechanical causes of mandibular hypoplasia
- Chromosomal aberrations reported in the sequence
- Genes of interest
- Teratogenic exposures reported in association
- 22q11 deletion versus Stickler syndrome
- Syndromic associations in a systematic review
- Syndromic associations in a series of 234 patients
- Genetic findings in the EUROCAT population study
- Stickler syndrome
Clinical picture
What the newborn actually struggles with
- Airway obstruction and feeding difficulty
- Hyoid bone abnormalities
- Cognitive development in nonsyndromic disease
Ultrasound
The signs, the planes and the measurements that flag a small jaw
- Ultrasound findings in Pierre Robin sequence
- Micrognathia on the sagittal fetal profile
- Facial landmarks and jaw measurements at 20 weeks
- Facial landmarks on the sagittal profile
- Facial-maxillary angle
- Measuring the facial-maxillary angle
- Frontal nasal-mental angle
- Measuring the frontal nasal-mental angle
- Alveolar overjet
- Measuring the alveolar overjet
- Mandibular length nomograms
- Polyhydramnios
- Cleft lip on the coronal view
- Cleft lip on three-dimensional rendering
- Glossoptosis on ultrasound
- Normal fetal tongue reaching the mandibular ridge
- Micrognathia with glossoptosis
- Classic signs on prenatal imaging
Fetal MRI
Three measurable features that turn suspicion into a probability
- Role of fetal magnetic resonance imaging
- Veau classification of cleft palate
- Veau types I and II
- Veau types III and IV
- Veau I/II cleft as an MRI predictor
- Tongue shape index
- Inferior facial angle
- Fetal MRI predictors of Robin sequence
- Combining the three MRI features
- 98%
Differential diagnosis
Other conditions that produce the same fetal facial findings
- Approach to the differential diagnosis
- Differential diagnosis from imaging findings
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
Treatment
Nothing to do before birth; a clear ladder afterwards
- Prenatal management
- Escalation of airway management
- Airway management after birth
- Mandibular distraction osteogenesis
- Feeding management
- Postnatal investigations and referrals
For the referring clinician
When to think of it, and what to arrange for delivery
- What the referring physician needs to know
- Key points
- Summary
- Suggested readings
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition