Skeletal and limb deformities

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33 Terms

1
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An absent sacrum and coccyx is referred to as:

Caudal regression syndrome

2
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The abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn is referred to as:

Colpocephaly

3
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All of the following are characteristics of spina bifida cystica except:

Banana sign

Lemon sign

Enlarged massa intermedia

Normal MSAFP

Enlarged massa intermedia

4
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The thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold–Chiari II malformation is the:

Massa intermedia

5
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The most common nonlethal skeletal dysplasia is:

Achondroplasia

6
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All of the following are signs of Arnold–Chiari II malformation except:

S-shaped spine

Banana sign

Lemon sign

Colpocephaly

S-shaped spine

7
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What is the anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element?

Hemivertebra

8
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In VACTERL association, the letter “C” stands for:

Cardiac

9
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Which of the following would increase the likelihood of a fetus developing sirenomelia and caudal regression syndrome?

Preexisting maternal diabetes

10
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ll of the following are clinical or sonographic findings consistent with LBWC except:


Ventral wall defects

Decreased MSAFP

Marked scoliosis

Shortened umbilical cord

Decreased MSAFP

11
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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:

Osteogenesis imperfecta

12
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What condition is associated with bilateral renal agenesis, oligohydramnios, and fusion of the lower extremities?

Sirenomelia

13
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All of the following are characteristics of spina bifida occulta except:

Closed defect

Elevated MSAFP

Sacral dimple

Hemangioma

Elevated MSAFP

14
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What abnormality results in limitation of the fetal limbs as a result of joint contractures?

Arthrogryposis

15
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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

Autosomal dominant

16
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Absent long bones with the hands and feet arising from the shoulders and hips describes:

Phocomelia

17
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A cloverleaf skull and hydrocephalus is seen with:

Thanatophoric dysplasia

18
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Achondroplasia is associated with all of the following except:


Frontal bossing

Flattened nasal bridge

Trident hand

Absent mineralization of the skull

Absent mineralization of the skull

19
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he group of fetal head and brain abnormalities that often coexists with spina bifida is referred to as:

Arnold–Chiari II malformation

20
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The abnormal lateral curvature of the spine is referred to as:

Scoliosis

21
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A bell-shaped chest and multiple fetal fractures are indicative of:

Osteogenesis imperfecta

22
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In VACTERL association, the letter “L” stands for:

Limb

23
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What is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect?

Folate

24
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What term is defined as fusion of the digits?

Syndactyly

25
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Which of the following is true for the diagnosis of clubfoot?

The metatarsals and toes lie in the same plane as the tibia and fibula.

The metatarsals are perpendicular to the tibia and fibula.

The carpals and metacarpals lie in the same plane as the tibia and fibula.

The tibia, fibula, and patella are perpendicular to the femur

The metatarsals and toes lie in the same plane as the tibia and fibula.

26
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All of the following are associated with spina bifida except:

Splaying of the laminae

Enlarged posterior fossa

Lemon sign

Banana sign

Enlarged posterior fossa

27
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Rhizomelia denotes:

Shortening of the proximal segment of a limb

28
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All of the following are associated with amniotic band syndrome except:

Amputation of fetal parts

Anencephaly

Facial clefting

Synechiae


Synechiae

29
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A disorder that results in abnormal bone growth and dwarfism is:

Achondroplasia

30
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Sonographically, you visualize a mass extending from the distal spine of a fetus. This mass could be all of the following except:

SCT

Meningocele

Meningomyelocele

Phocomeningocele

Phocomeningocele

31
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Absence of the radius is referred to as:

Radial ray defect

32
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Talipes equinovarus is associated with:

Clubfoot

33
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All of the following are characteristic sonographic findings of achondrogenesis except:

Micromelia

Absent mineralization of the pelvis

Multiple dislocated joints

Polyhydramnios

Multiple dislocated joints