Chapter 38 - Developmental Flashcards
1
Q
Sunset sign A. Hydrocephaly B. Anencephaly C. Microcephaly D. Chiari malformation
A
A. Hydrocephaly (p. 1005)
2
Q
Bat wing deformity of the ventricles A. Hydrocephaly B. Porencephaly C. Schizencephaly D. Agenesis of the corpus callosum
A
D. Agenesis of the corpus callosum (p. 1005)
3
Q
Craniostenosis affecting the lambdoid and coronal sutures A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
A. Oxycephaly/turricephaly (p. 1006)
4
Q
Craniostenosis affecting only the sagittal suture A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
B. Scaphocephaly (p. 1006)
5
Q
Craniostenosis affecting only the coronal suture in its entirety A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
C. Brachycephaly (p. 1006)
6
Q
Craniostenosis wherein the maximum length of the skull is in the diagonal plane due to the head of the infant being constantly turned to one side A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
D. Plagiocephaly (p. 1006)
7
Q
The head is long and narrow A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
B. Scaphocephaly (p. 1006)
8
Q
The head is short and wide A. Oxycephaly/turricephaly B. Scaphocephaly C. Brachycephaly D. Plagiocephaly
A
C. Brachycephaly (p. 1006)
9
Q
Which of the following is NOT true of complete lissencephaly*
A. The lateral and 3rd ventricles enlarge
B. Hydranencephaly is present
C. The cerebellar cortex is spared
D. Patients may have subtle craniofacial features and congenital heart disease
A
C. The cerebellar cortex is spared (p. 1009)
10
Q
The gene affected is the RELN (reelin) gene
A. Lissencephaly with cerebellar hypoplasia
B. Miller-Dieker lissencephaly
C. X-linked lissencephaly
D. Periventricular nodular heterotopia
E. Holoprosencephaly
A
A. Lissencephaly with cerebellar hypoplasia (p. 1008)
11
Q
The gene affected is LIS1 A. Lissencephaly with cerebellar hypoplasia B. Miller-Dieker lissencephaly C. X-linked lissencephaly D. Periventricular nodular heterotopia E. Holoprosencephaly
A
B. Miller-Dieker lissencephaly (p. 1008)
12
Q
The gene affected is DCX (doublecortin) A. Lissencephaly with cerebellar hypoplasia B. Miller-Dieker lissencephaly C. X-linked lissencephaly D. Periventricular nodular heterotopia E. Holoprosencephaly
A
C. X-linked lissencephaly (p. 1008)
13
Q
The gene affected is FLNA (filamin A) A. Lissencephaly with cerebellar hypoplasia B. Miller-Dieker lissencephaly C. X-linked lissencephaly D. Periventricular nodular heterotopia E. Holoprosencephaly
A
D Periventricular nodular heterotopia (p. 1008)
14
Q
The gene affected is SHH A. Lissencephaly with cerebellar hypoplasia B. Miller-Dieker lissencephaly C. X-linked lissencephaly D. Periventricular nodular heterotopia E. Holoprosencephaly
A
E. Holoprosencephaly (p. 1008)
15
Q
Cerebellomedullary descent only A. Chiari type I B. Chiari type II C. Chiari type III D. Chiary type IV
A
A. Chiari type I (p. 1016)
16
Q
Cerebellomedullary descent with a meningomyelocele A. Chiari type I B. Chiari type II C. Chiari type III D. Chiary type IV
A
B. Chiari type II (p. 1016)
17
Q
High cervical or occipitocervical meningomyelocele with cerebellar herniation A. Chiari type I B. Chiari type II C. Chiari type III D. Chiary type IV
A
C. Chiari type III (p. 1016)
18
Q
Cerebellar hypoplasia A. Chiari type I B. Chiari type II C. Chiari type III D. Chiary type IV
A
D. Chiari type IV (p. 1016)
19
Q
Most common form of inherited mental retardation A. Klinefelter syndrome (XXY) B. Turner syndrome (XO) C. Fragile X syndrome D. Prader-Willi syndrome E. Angelman syndrome
A
C. Fragile X syndrome (p. 1018)
20
Q
Hypometia, hypotonia, hypogonadism, and obesity A. Klinefelter syndrome (XXY) B. Turner syndrome (XO) C. Fragile X syndrome D. Prader-Willi syndrome E. Angelman syndrome
A
D. Prader-Willi syndrome (p. 1019)
21
Q
Triad of adenoma sebaceum, epilepsy, and developmental delay A. Tuberous sclerosis B. NF 1 C. NF 2 D. Sturge-Weber syndrome
A
A. Tuberous sclerosis (p. 1020)
22
Q
Cafe au lait spots, Crowe sign, Lisch nodules, optic pathway glioma, bony dysplasia* A. Tuberous sclerosis B. NF 1 C. NF 2 D. VHL
A
B. NF 1 (p. 1025)
23
Q
"Tramline" calcifications outlining the involved convolutions of the parietooccipital cortex as seen on skull films A. NF 1 B. NF 2 C. Sturge-Weber syndrome D. VHL
A
C. Sturge-Weber syndrome (p. 1029)
24
Q
Main complication of Osler-Rendu-Weber disease A. Seizures B. Developmental delay C. Limb disfigurement D. Bleeding
A
D. Bleeding (p. 1030)
25
The most frequent disorder evolving from the 4 major categories of neonatal cerebral disease - matrix hemorrhage, PVL, HIE, and kernicterus
A. Spastic diplegia
B. Spastic quadriplegia
C. Mixed pyramidal-extrapyramidal syndrome
D. Spastic-ataxic syndrome
A. Spastic diplegia (p. 1036)
26
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Molar tooth sign on MRI
A. Louis-Bar syndrome
B. Mobius syndrome
C. Cogan apraxia
D. Joubert syndrome
```
D. Joubert syndrome (p. 1040)
27
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Most common complication of congenital rubella
A. Cataracts
B. Sensorineural hearing loss
C. Congenital heart disease
D. Developmental delay
```
B. Sensorineural hearing loss (p. 1042)
28
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Most frequent intrauterine viral infection is caused by
A. Rubella
B. CMV
C. HIV
D. Herpes simplex
```
B. CMV (p. 1043)
29
Which of the following is NOT characteristic of Rett syndrome?*
A. Affects girls only
B. Results in a fatal outcome in boys because of a severe neonatal encephalopathy
C. Handwringing and similar stereotypies are very typical features
D. Patients develop a PVS state by 20 years
D. Patients develop a PVS state by 20 years (p. 1052)
30
Which of the following is NOT true about tuberous sclerosis?*
A. The disease is inherited in an autosomal dominant fashion but with variable penetrance.
B. It requires mutations in both the TSC 2 and TSC 2 genes to produce the disease.
C. Surgically resected tubers show activation of mTOR.
D. Everolimus has been found to be useful in suppressing the status epilepticus associated with some cases of TS.
B. It requires mutations in both the TSC 2 and TSC 2 genes to produce the disease. (pp. 1021-1024)
31
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Which of the following is NOT a feature of tuberous sclerosis?*
A. Kayser Fleischer ring
B. Shagreen patch
C. Ungal fibroma
D. Ash leaf spots
```
A. Kayser Fleischer ring (Table 38-5, p. 1021)
32
True of NF 1*
A. Also called central neurofibromatosis
B. Characterized by multiple tumors that tend to be highly vascular and invasive and are especially prominent in the orbital, periorbital, and cervical regions
C. Autosomal dominant inheritance with complete penetrance
D. Bilateral schwannomas are characteristic
B. Characterized by multiple tumors that tend to be highly vascular and invasive and are especially prominent in the orbital, periorbital, and cervical regions (p. 1026)
33
The following are features of the Sturge-Weber syndrome EXCEPT*
A. A vascular nevus is observed at birth to cover a large part of the face and cranium on one side
B. The vascular nevus is usually in the territory of the ophthalmic division of the trigeminal nerve
C. The most frequent clinical manifestations are unilateral seizures
D. All of the above
D. All of the above (p. 1029)
34
```
Which of the following does not present as floppy infant syndrome?*
A. Metachromatic leukodystrophy
B. Prader-Willi syndrome
C. Werdnig-Hoffman SMA
D. Infantile muscular dystrophy
E. Myotonic dystrophy
F. Polymyositis
```
A. Metachromatic leukodystrophy (Table 38-7, p. 1040)
35
```
Which feature is NOT seen in tuberous sclerosis?*
A. Adenoma sebaceum
B. Lisch nodules
C. Ungual fibroma
D. Ash leaf spots
```
B. Lisch nodules (Table 38-5, p. 1021)
36
Difference between type I and type II Chiari malformation*
A. No myelomeningocele in type I
B. No myelomeningocele in type II
C. Presence of occipitocervical meningomyelocele in type III
D. Cerebellar hypoplasia in type I
A. No myelomeningocele in type I (p. 1016)
