CC - Development of the Brain

Question 1

Craniosynostosis

Answer 1

Premature closure of one or more sutures that produces a misshapen skull

Question 2

Brachycephaly

Answer 2

Bilateral fusion of coronal sutures produces a shortened front-to-back diameter of skull “flat-head”

Question 3

Oxycephaly

Answer 3

Fusion of conoral and lambdoidal sutures producing a “tower skull”

Question 4

Plagiocephaly

Answer 4

Fusion of coronal and lambdoidal sutures unilaterally produces an asymmetrical skull; “twisted skull”

Question 5

Scaphocephaly

Answer 5

Fusion of the sagittal suture produces a long front-to-back diameter skull

Question 6

Turricephaly

Answer 6

Oxycephaly “cone head”

Question 7

Acrocephaly

Answer 7

Oxycephaly

Question 8

Trigonacephaly

Answer 8

Fusion of the frontal suture so that the forehead looks like a triangle

Question 9

Lambdoidal Suture Positioning Flattening

Answer 9

Caused by consistently lying a baby on their back

Question 10

Craniorachischisis

Answer 10

Large part of the neural tube does not form; malformed tissue exposed along back and head

Question 11

Anencephaly

Answer 11

Lack of Brain

Question 12

Meroanencephaly

Answer 12

Rostral neuropore does not close, remnants of brain, especially brainstem

Question 13

Myelomeningocele

Answer 13

Spina Bifida - Failure of the caudal neuropore to close

Question 14

Occipital Encephalocele

Answer 14

Defect in occipital bone that brain and meninges protrude through

Question 15

Meningocele

Answer 15

Spina Bifida - Lack of vertebral body resulting in cyst protruding on skin (Spinal cord intact and normal)

Question 16

Spina Bifida Occulta

Answer 16

Lack of vertebral body (tuft of hair covering)

Question 17

Occult spinal dysraphism

Answer 17

Tethered spinal cord; failure of neural tube to completely detach from surface ectoderm; sacral/coccygeal region

Question 18

Syringomyelia

Answer 18

Formation of “Empty Tube” of the spinal cord; cervical region; loss of pain and temperature over shoulders/upper arms

Question 19

Holoprosencephaly

Answer 19

Forebrain does not divide into two hemispheres

Question 20

Hydrocephalus

Answer 20

Dilation of ventricles due to CSF overproduction, obstruction to flow, or failure to reabsorb; head enlarges and cortical tissue is compressed before the sutures close

Question 21

Dandy-Walker

Answer 21

partial or complete absence of cerebellar vermis

Question 22

Arnold-Chiari Malformation

Answer 22

Type 1: syringomyelia and some hydrocephalus

Type 2: NTD, like lumbosacral meningomyelocele, displacement of cerebellum, hydrocephalus

Type 3: occipital encephalocele, syringomelia

Type 4: lack of cerebellar development

Question 23

Waardenburg Syndrome

Answer 23

Failure of neural crest cells to migrate resulting in lack of melanocytes in hair, skin, eyes; deafness; chronic constipation

Question 24

Hirschsprung Disease

Answer 24

Congenital megacolon - failure of neural crest cells to migrate to the colon; most common: rectum and sigmoid colon

Question 25

Apert Syndrome

Answer 25

Autosomal dominamt; underdeveloped midface, symmetric syndactyly in hands and feet; mental retardation

Question 26

Microcephaly

Answer 26

Small head due to lack of brain growth

Question 27

Cranioschisis

Answer 27

Skull defect through which the meninges and/or brain herniate (rostral NTD, usually occipital)

Question 28

Meningocele

Answer 28

Meninges only protruding

Question 29

Meningoencephalocele

Answer 29

Meninges plus brain protruding

Question 30

Meningohydroencephalocele

Answer 30

Meninges, brain and ventricles protruding

Question 31

Acrania

Answer 31

No skull

Question 32

Crouzon Syndrome

Answer 32

Autosomal dominant failure of the skull bones to expand; mental retardation; no syndatyly