Embryologic Developmental Disorders

Question 1

Spina Bifida

Answer 1

Neural tube defect - occurs when the spinal vertebrae do not fully form and remain unfused. May result in the spinal cord protruding through the spine with a fluid filled sac visible on the back.

Question 2

Encephalocele

Answer 2

Neural tube defect - occurs when the neural tube portion responsible for the brain does not fully form causing a sac-like protrusion of brain tissue through the skull.

Question 3

Myelomeningocele

Answer 3

neural tube defect - form of spina bifida. Can occur anywhere along the spine.

Question 4

Chiari malformation

Answer 4

neural tube defect - occurs when the skull is too small forcing the cerebellum to be pushed down through the foramen magnum.

Question 5

Arnold-Chiari II or Chiari type II malformation

Answer 5

neural tube defect - occurs when the cerebellum and brainstem extend further into the foramen magnum than usual and may cause obstruction to CSF flow, leading to hydrocephalus.

Question 6

Anencephaly

Answer 6

neural tube defect

Question 7

Dermoid Cyst

Answer 7

Remnant of the primitive streak - cyst consisting of all three germ layers on the back.

Question 8

Lateral Branchial Cysts and Fistulas

Answer 8

Branchial malformation - occurs when the cervical sinuses do not close during development

Question 9

1st and 2nd Branchial Arch Syndromes

Answer 9

Three 1st and 2nd arch syndromes include:
- Treacher Collins
- Pierre Robins syndrome/sequence
- Stickler syndrome
Features:
- Cleft lip
- Micrognathia
- EAC abnormalities like atresia or pinna abnormalities