← All decks
The first 25 slides, exactly as they appear. The full deck has 51 content slides.
Radiology
Meckel-Gruber Syndrome
Built from Obstetric Imaging
What’s inside
9 sections · 51 slides
Overview
- Meckel-Gruber syndrome at a glance
The disorder and its definition
What must be present before the diagnosis is made
- Definition of Meckel-Gruber syndrome
- The classic triad of Meckel-Gruber syndrome
- Disagreement over the minimum diagnostic criteria
- How the diagnostic criteria have changed
- Occipital encephalocele in a newborn
- Confirming the diagnosis with DNA testing
Prevalence and epidemiology
How often it occurs, and where it clusters
- Prevalence of Meckel-Gruber syndrome
- 1:1300
- Populations with a higher reported frequency
Etiology and pathophysiology
Faulty cilia, fourteen genes, recessive inheritance
- Primary cilia and their role in development
- Structure of a primary cilium
- From gene fault to malformation
- Autosomal recessive inheritance
Manifestations of disease
The triad, the liver, and everything else that can go wrong
- 95-100%
- Occipital encephalocele
- Occipital encephalocele measured with calipers
- Large occipital encephalocele
- Other central nervous system malformations
- Large, polycystic kidneys
- Large, polycystic kidneys on ultrasound
- Kidney tissue replaced by cysts
- Postaxial polydactyly
- Postaxial polydactyly on ultrasound
- Extra digit on the little-finger side
- Hepatic developmental abnormalities
- Organ systems affected beyond the triad
- Craniofacial and ophthalmologic anomalies
- Endocrine, cardiac and abdominal anomalies
- Oligohydramnios and pulmonary hypoplasia
- Route from cystic kidneys to death
Imaging technique and findings
When each feature becomes visible, and what MRI adds
- Ultrasound diagnosis
- Earliest gestational age at which each feature is seen
- Magnetic resonance imaging
- Classic signs
Differential diagnosis
The look-alikes, and the test that separates them
- Differential diagnosis from imaging findings
- Meckel-Gruber syndrome versus trisomy 13
- Trisomy 13 karyotype
- Role of karyotyping in the work-up
Treatment options and counselling
No cure before or after birth, so counselling carries the weight
- Prenatal management
- Postnatal management and outcome
- Options in a future pregnancy
- What the referring physician needs to know
Key points and references
What to carry away, and where it came from
- Key points
- Suggested readings
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition