Chapter 26 - Fetal spine & MSK system Flashcards
(123 cards)
1
Q
Rare, lethal condition resulting in abnormal development of the bones and cartilage
A
Achondrogenesis
2
Q
A disorder that results in abrnoaml bone growth and dwarfism
A
Achondroplasia
3
Q
Group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting
A
Amniotic band syndrome
4
Q
no amniotic fluid
A
Anhydroamnios
5
Q
Includes bones of the upper extremities, lower extremities and pelvic girdle
A
Appendicular skeleton
6
Q
A way in which a disorder or trait can be inherited by a fetus; at least one of the parents has to be a carrier of the gene for the disease
A
Autosomal Dominant disorder
7
Q
Includes the bones of the cranium and spine
A
Axial skeleton
8
Q
Syndrome associated with then absence of the sacrum and coccyx; also referred to as sacral agenesis
A
Caudal Regression syndrome
9
Q
Protrusions of intracranial contents through a defect in the skull
A
Cepahlocele
10
Q
The abnormal shape of the cranium caused by premature fusion of the sutures in which there is frontal bossing and a cloverleaf shape to the skull
A
cloverleaf skull
11
Q
A malformation of the bones of the foot in which the foot is most often inverted and rotated medially, and the metatarsals and toes lie in the same plane as the tibia and fibula
A
Clubfoot
12
Q
Abnormal short stature
A
Dwarfism
13
Q
Denotes the abnormal development of a structure
A
Dysplasia
14
Q
Protrusion of brain tissue through a defect in skull
A
Encephalocele
15
Q
The angling of the frontal bone that produces an unusually prominent forehead
A
frontal bossing
16
Q
The anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element
A
Hemiverterba
17
Q
Most common nonlethal skeletal dysplasia that is characterized by rhizomelia
A
Heterozygous
Achondroplasia
18
Q
The fatal form of achondroplasia
A
Homozygous Achondroplasia
19
Q
The combination of both scoliosis and kyphosis in the fetus
A
Kyphoscolisosis
20
Q
An abnormal posterior curvature of the spine
A
Kyphosis
21
Q
A group of disorders with sonographic findings including a short or absent umbilical cord, ventral wall defects, limb defects, craniofacial defects, and scoliosis
A
Limb-Body wall complex
22
Q
The coverings of the brain and spinal cord
A
Meninges
23
Q
Herniation of the cranial or spinal meninges because of an open cranial or spinal defect; contains cerebrospinal fluid but no nerve tissue
A
Meningocele
24
Q
Mass that results from an open spina bifida that contains the spinal cord and the meninges; also referred to as a myelomeningocele
A
Meningomyelocele
25
Mass that results from open spina bifida that contains spinal cord only
Myelocele
26
A group of disorders that result in multiple fractures in utero; caused by decreased mineralization and poor ossification of the bones
Osteogenesis imperfecta
27
Absence or underdevelopment of the radius
radial ray defect
28
Shortening of the proximal segment of the limb
rhizomelia
29
The nondevelopment of the sacrum
sacral agencies
30
An opening in the skin over the distal spine
Sacral dimple
31
An abnormal lateral curvature of the spine
Scolisosis
32
A fetal abnormality characterized by fusion of the lower extremities, renal agenesis, and oligohydroamnios; may also be referred to as mermaid syndrome
SIrenomelia
33
Most common form of spina bifida; results in open lesions that are typically not covered by skin and a mass that protrudes from the spine; also referred to as open spina bifida
Spina Bfida Aperta
34
Closed spinal lesions that are completely covered by skin and can be difficult to identify sonographically; also referred to as closed spina bifida
Spina Bfida Oculta
35
A group of neural tube defects that describe some manifestation of incomplete closure of the spine
Spinal Dysraphism
36
Turned outward
Splay
37
Most common lethal skeletal dysplasia characterized by a cloverleaf skull with frontal bossing and hydrocephalus
Thanatoporic Dysplasia
38
a wide separation between middle and ring finger
trident hand
39
An acronym for a combination of abnormalities that represent vertebral anomalies, anorectal atresia, cardigan anomalies, tracheoesophageal fistula, renal anomalies, and limb anomalies
VACTERL Association
40
The axial Skelton begins to form between what two menstrual weeks
6 and 8
41
the spine consists of what 5 sections
```
cervical
thoracic
lumbar
sacrum
coccyx
```
42
The centrum will eventually form the
Vertebral body
43
The neural processes of the vertebra will eventually form into what 5 parts
```
Lamina,
Pedicle
Transverse process
Spinous process
Articular Process
```
44
Structure that runs the length of the spine and contains the spinal cord
Vertebral column
45
The 2 most common neural defects, occurring in 1 in every 1,000 pregnancies
Anencephaly & spina Bride
46
80% of spina bifida can be detected with what screening in association with sonography
AFP screening
47
Omphalocele, gastroschisis, multiple gestations and fetal death are associated with elevated levels of
MSAFP
48
Type of Spina Bfida that is not associated with elevated MSAFP
Closed Spina BFIDA
49
Neural tube defect that occurs when the embryonic neural tube fails to close
Spina BFida
50
Spina bifida can be subdivided into two types
Occulta (Closed) and Aperta (Open
51
The most common form of spina bifida
Spina Bfida Aperta
52
Meningocele and myelomeningocele are forms of spina bifida referred to as
Spina Bfida Cystica
53
The most common location of spina bifida is
Lumbrosacral area
54
he sensitivity of cranial findings associated with Chiari II malformations, with detecting spina bifida is said to be greater than what percentage
99%
55
Fetal surgery can be performed on the fetus with spina bifida when a mass is identifiable on the spine as early as how many weeks gestation
16 weeks
56
The goal of performing surgery on the fetus who has spina bifida is to prevent the _________________ associated with spina bifida
Neurologic defects
57
Clinical Findings:
1. In utero: normal laboratory values
2. Postnatal: sacral dimple, hemangioma, lipoma, or excessive hair identified directly over the distal spine
These are the clinical findings of?
Spina Bfida Occulta
58
Clinical Findings:
1. Elevated MSAFP
Sonographic Findings:
1. Splaying of the laminae in the area of the defect
2. Cystic (meningocele) or complex (myelomeningocele) mass protruding from the spine
3. Lemon Sign
4. Banana Sign
5. Obliterated cisterna magna
6. Colpocephaly
7. Hydrocephalus
These represent the clinical and sonographic findings of?
Spina Bifida Aperta
59
Distortion of the spine can be seen with what 4 things (MAHL)
Hemivertebrae
, Myelomeningoceles,
Amniotic Band Syndrome,
and Limb Body Wall Complex
60
Vascular occlusion, amnion rupture, or embryonic dysgenesis are the three postulated causes of?
Limb Body wall complex
61
Clinical Findings:
1. Elevated MSAFP (due to an opening in the ventral wall)
Sonographic Findings:
1. Short or absent umbilical cord
2. Marked scoliosis
3. Close connection with the placenta
4. Various other anomalies including craniofacial and limb defects
These are the clinical and sonographic findings of?
Limb Body wall compelxc
62
More than __________ skeletal dysplasias have been identified
271
| `
63
The four most common skeletal dysplasias
Achondroplasia, Achondrogenesis, Osteogenesis Imperfecta, and Thanatophoric Dysplasia
64
Heterozygous achondroplasia is this type of disorder
Autosomal Dominant Disorder
65
Homozygous achondroplasia is fatal and occurs when both parents are
Dwarfs
66
Rhizomelia is not detected until 24 weeks gestation, when a difference in gestational age measurements between the __________ and __________ are detected
BPD
| Femur length
67
Sonographic Findings:
1. Macrocrania
2. Frontal bossing
3. Flattened nasal bridge
4. Micromelia
5. Trident hand
These are the sonographic findings of?
Achondrplasia
68
The most severe type of osteogenesis imperfecta
Type 11
69
Sonographic Findings:
1. Demineralization of the skull (transducer pressure can alter the shape of the skull)
2. Multiple fractures
3. Bell shaped chest
4. Decreased fetal movement
These are the sonographic findings of?
Osteogenis/Imperfecta/Brittle bone disease
70
Fetuses with thanatophoric dysplasia typically die shortly after birth, succumbing to
Pulmonary Hypoplasia
| Secondary thoracic narrowing
71
Sonographic Findings:
1. Cloverleaf skull
2. Hydrocephalus
3. Depressed nasal bridge
4. Bell shaped chest (narrow thorax)
5. Polyhydramnios
6. Redundant soft tissue
These are the sonographic findings of?
Thantarophic dysplasia
72
Clinical Findings:
1. Association with uncontrolled maternal diabetes
Sonographic Findings:
1. Absent sacrum and possibly part of the lumbar vertebrae
2. Possible abnormalities in the lower extremities like clubfeet
These are the clinical and sonographic findings of?
Caudal regression syndrome
73
Sirenomelia is almost always lethal because of its association with
Bilateral renal agencies
74
Clinical Findings:
1. Uncontrolled maternal diabetes
Sonographic Findings:
1. Fusion of the lower extremities
2. Bilateral renal agenesis
3. Oligohydramnios (possibly anhydramnios)
These are the clinical and sonographic findings of?
Sirenomelia
75
The most common congenital neoplasm that is more frequently found in females
Sacroccocygeal Teratoma
76
Has the potential to grow inside of the pelvis, may cause destruction of the sacrum and pelvic bones, and if large may have malignant potential
Sacrococcygeal teratoma
77
Sonographic Findings:
1. Complex mass extending off of the distal fetal spine
2. Mass can be highly vascular
3. Hydronephrosis may be present (when mass invades the pelvis)
4. Fetal hydrops may be present
These are the sonographic findings of?
Sacroccocygeal teratoma
78
The appendicular skeleton begins to form between what two weeks gestation
6 and 8 weeks
79
The femur, tibia, fibula, humerus, radius, and ulna can be measured as early as how many weeks gestation
12 weeks
80
Radial ray defect can be seen with what two trisomies
Trisomy 13 and 18
81
Sonographic Findings:
1. Absent or hypoplastic radius
2. Various defects in other body systems cardiac and VACTERL association
These are the sonographic findings of?
Radial ray defect
82
Sonographic Findings:
1. Amputation of fetal parts or severe edema in the affected area
2. Facial clefting
These are the sonographic findings of?
Amniotic band syndrome
83
Sonographic Findings:
1. Metatarsals lie in the same plane as the tibia and fibula
These are the sonographic findings of?
clubfoot
84
```
what is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect?
A. AFP
B. ESTRIOL
C.FOLATE
D. PREGANCY PROTEIN A
```
C
85
Talipes equinovarus is associated with:
a) Clubfoot
b) Syndactyly
c) Rhizomelia
d) Rockerbottom feet
A
86
The artifact seen posterior to solid structures such as fetal bone is referred to as:
a) Acoustic shadowing
b) Posterior enhancement
c) Reverberation artifact
d) Edge artifact
A
87
What is the anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element?
a) Kyphosis
b) Scoliosis
c) Kyphoscoliosis
d) Hemivertebra
D
88
The disorder associated with fetal amputation is:
a) Achondroplasia
b) Osteogenesis imperfecta
c) Thanatophoric dysplasia
d) Amniotic band syndrome
D
89
The form of inheritance in which at least one parent has to be a carrier of an abnormal gene for it to be passed to the fetus is:
a) Autosomal recessive
b) Autosomal dominant
c) inherited dominant
d) Inherited recessive
B
90
The condition associated with the absence of the sacrum and coccyx:
a) LBWC
b) Caudal regression syndrome
c) Thanatophoric dwarfism
d) Heterozygous achondroplasia
B
91
All of the following are characteristics of spina bifida occulta except:
a) Closed defect
b) Elevated MSAFP
c) Sacral dimple
d) Hemangioma
B
92
The abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn is referred to as:
a) Cebocephaly
b) Banana sign
c) Colpocephaly
d) Cephalocele
C
93
All of the following are characteristics of spina bifida cystica except:
a) Banana sign
b) Lemon sign
c) Enlarged massa intermedia
d) Normal MSAFP
D
94
In VACTERL association, the letter "C" stands for:
a) Cerebellar
b) C-spine
c) Cranial
d) Cardiac
D
95
All of the following are associated with spina bifida except:
a) Splaying of the laminae
b) Enlarged posterior fossa
c) Lemon sign
d) Banana sign
B
96
The abnormal lateral curvature of the spine is referred to as:
a) Kyphosis
b) Scoliosis
c) Splaying
d) Achondroplasia
B
97
The lemon sign denotes:
a) An abnormal shape of the fetal skull
b) A normal shape of the cerebellum
c) An abnormal shape of the cerebellum
d) A normal shape of the fetal skull
A
98
All of the following are clinical or sonographic findings consistent with LBWC except:
a) Ventral wall defects
b) Decreased MSAFP
c) Marked scoliosis
d) Shortened umbilical cord
B
99
A disorder that results in abnormal bone growth and dwarfism is:
a) Osteogenesis imperfecta
b) Achondroplasia
c) Radial ray defect
d) Caudal regression syndrome
B
100
Which of the following would increase the likelihood of a fetus developing sirenomelia and caudal regression syndrome?
a) Previous cesarean section
b) Preexisting maternal diabetes
c) Previous ectopic pregnancy
d) Elevated human chorionic gonadotropin
B
101
The group of fetal head and brain abnormalities that often coexist with spina bifida is referred to as:
a) Dandy-Walker malformation
b) Budd-Chiari syndrome
c) Arnold-Chiari II malformation
d) Amniotic band syndrome
C
102
In VACTERL association, the letter "L" stands for:
a) Limb
b) Lung
c) Liver
d) Larynx
A
103
The most common nonlethal skeletal dysplasia is:
a) Achondrogenesis
b) Achondroplasia
c) Thanatophoric dysplasia
d) Osteogenesis imperfecta
B
104
Achondroplasia is associated with all of the following except:
a) Frontal bossing
b) Flattened nasal bridge
c) Trident hand
d) Absent mineralization of the skull
D
105
What abnormality results in limitation of the fetal limbs as a result of joint contractures?
a) Acromegaly
b) Radial ray defect
c) Achondrogenesis
d) Arthrogryposis
D
106
The thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold-Chiari II malformation is the:
a) Corpus callosum
b) Cerebellar vermis
c) Cavum septum pellucidum
d) Massa intermedia
D
107
Rhizomelia denotes:
a) Long upper extremities
b) Shortening of an entire limb
c) Shortening of the proximal segment of a limb
d) Shortening of the distal segment of a limb
C
108
An absent sacrum and coccyx is referred to as:
a) Sirenomelia
b) Caudal regression syndrome
c) Achondroplasia
d) Radial ray defect
B
109
Absent long bones with the hands and feet arising from the shoulders and hips describes:
a) Micromelia
b) Mesomelia
c) Phocomelia
d) Arthrogryposis
C
110
All of the following are characteristic sonographic findings of achondrogenesis except:
a) Micromelia
b) Absent mineralization of the pelvis
c) Multiple dislocated joints
d) Polyhydramnios
C
111
Upon sonographic interrogation of a 28-week pregnancy, you note that when pressure is applied to the fetal skull, the skull can be easily distorted. This is sonographic evidence of:
a) Arnold-Chiari II malformation
b) Achondroplasia
c) Thanatophoric dysplasia
d) Osteogenesis imperfecta
D
112
A bell-shaped chest and multiple fetal fractures are indicative of:
a) Thanatophoric dysplasia
b) Caudal regression syndrome
c) Achondrogenesis
d) Osteogenesis imperfecta
D
113
All of the following are signs of Arnold-Chiari II malformation except:
a) S-shaped spine
b) Banana sign
c) Lemon sign
d) Colpocephaly
A
114
All of the following are associated with amniotic band syndrome except:
a) Amputation of fetal parts
b) Anencephaly
c) Facial clefting
d) Synechiae
D
115
The exaggerated distance between the first toe and the second toe is:
a) Trident toes
b) Sandal gap
c) Phocomelia
d) Mesomelia
B
116
Sirenomelia is commonly referred to as:
a) Radial ray defect
b) Rhizomelia
c) Mermaid syndrome
d) Rockerbottom feet
C
117
Absence of the radius is referred to as:
a) Talipes equinovarus
b) Clubfoot
c) Radial ray defect
d) Phocomelia
C
118
onographically, you visualize a mass extending from the distal spine of a fetus. This mass could be all of the following except:
a) SCT
b) Meningocele
c) Meningomyolocele
d) Phocomeningocele
D
119
A cloverleaf skull and hydrocephalus is seen with:
a) Achondrogenesis
b) Osteogenesis imperfecta
c) Sirenomelia
d) Thanatophoric dysplasia
D
120
What term is defined as fusion of the digits?
a) Clinodactyly
b) Polydactyly
c) Syndactyly
d) Rhizodactyly
C
121
A protein produced by the yolk sac and fetal liver that is found in excess in the maternal circulation in the presence of a neural tube defect is:
a) Folate
b) hCG
c) Estriol
d) AFP
D
122
What condition is associated with bilateral renal agenesis, oligohydramnios, and fusion of the lower extremities?
a) SCT
b) Caudal displacement syndrome
c) Sirenomelia
d) Osteogenesis imperfecta
C
123
Which of the following is true for the diagnosis of clubfoot?
a) The metatarsals and toes lie in the same plane as the tibia and fibula
b) The metatarsals are perpendicular to the tibia and fibula
c) The carpals and metacarpals lie in the same plane as the tibia and fibula
d) The tibia, fibula, and patella are perpendicular to the femur
B
