Fetal brain anomalies

Question 1

Name genetics etiologies in which encephalocele is found?

Answer 1

Autosomal recessive syndromes:

• Meckel-Gruber syndrome *** (encephalocele, polydactyly, polycystic kidneys)
• Walker-Warburg syndrome (lissencephaly, hydrocephalus, encephalocele, microphthalmia, cataracts)
• Knobloch syndrome (vitreoretinal degeneration & encepahlocele)

&
Trisomy 13
Trisomy 18
Triploidy

Question 2

What is the most common congenital syndrome associated with rhombencephalosynapsis?

Answer 2

Gomez-Lopez-Hernandez Syndrome

• Rhombencephalosynapsis
• Craniofacial anomalies
• Craniosynostosis
• Trigeminal nerve anesthesia
• Parietooccipital alopecia
• Short stature
• Intellectual impairment

Question 3

What is rhombencephalosynapsis?

Answer 3

Midline fusion of cerebellar hemispheres with partial or complete loss of vermis