ERU 26 - The Fetal Spine and MSK System Flashcards

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1
Q

What anomalies area represented in VACTERL association?

A
Vertebral anomalies
Anorectal atresia
Cardiac anomalies
TrachEoesophaleal fistula
Renal anomalies
Limb anomalies
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2
Q

At what week does the fetal spine start to develop?

A

6-8

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3
Q

What are the components of the fetal vertebrae?

A

3 echogenic ossification centers: the centrum and 2 neural processes

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4
Q

Myelocele
Meningocele
Meningomyelocele

A

Spina bifida containing only spinal cord
Contains only meninges
Contains meninges and nerve root

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5
Q

spina bifida occulta vs aperta

A

Occulta is a closed defect (covered by skin)

Aperta is visible without imaging

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6
Q

What cranial sonographic finding is associated with spina bifida?

A

Lemon sign: scalloping of the frontal bones
Banana sign: Displacement of the cerebellum inferiorly and obliterated cisterna magna
Colpocephaly: Small frontal horns and enlarged occipital horns

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7
Q

Limb-Body Wall Complex

A
A rare group of fetal defects that include:
Short/absent umbilical cord
Ventral wall defects
Limb defects
Craniofacial defects
- exencephaly (cerebrum outside skull)
- encephalocele (protrusion of brain tissue through a defect)
Scoliosis
Elevated MSAFP
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8
Q

What are the 4 most common skeletal dysplasias?

A

Achondroplasia
Achondrogenensis
Osteogenesis imperfecta
Thanatophoric dysplasia

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9
Q

Heterozygous Achondroplasia

What physical findings are associated?

A

A type of dwarfism in which rhizomelia is present (proximal limbs much shorter than distal limbs)
The most common nonlethal skeletal dysplasia.

Difference in GA between BPD and FL, frontal mossing, trident hand

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10
Q

How does homozygous achondroplasia differ from heterozygous achondroplasia?

A

Homozygous achondroplasia is usually fatal within 2 years of life.

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11
Q

Achondrogenesis

What is a common associated finding?

A

A rare, lethal condition resulting in absent mineralization of the skeletal bones.
Polyhydramnios

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12
Q

What ultrasound findings are associated with osteogenesis imperfecta?

A

Malleable skull, multiple fractures, and bell-shaped chest

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13
Q

Thanatophoric Dysplasia

What are the common ultrasonographic findings?

A

Most common lethal skeletal dysplasia
Cloverleaf skull, hydrocephalus, long bones with “telephone receiver” shape, bell shaped chests, depressed nasal bridge, redundant soft tissue

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14
Q

Caudal regression syndrome
Sonographic findings
Common cause

A

Sacral agenesis
No sacrum or coccyx on US. Possible club feet
Uncontrolled pregestational DM

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15
Q

Sirenomelia
Associated with:
Often caused by:

A

Mermaid syndrome: Fusion of the lower extremities
Bilateral renal agenesis > oligohydramnios, genital absence, two-vessel cord
Poorly controlled pregestational DM

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16
Q

What is sacrococcygeal teratoma?

A

A germ cell tumor on the fetal spine.

Can be inside or outside the pelvis. Can cause obstructive urinary issues or heart failure if inside

17
Q

What is the appendicular skeleton?

When does it form?

A

The “appendages” and pelvic girdle (not head or spine)

6-8w gestation

18
Q

Definitions:

  1. Acromelia
  2. Mesomelia
  3. Micromelia
  4. Phocomelia
  5. Rhizomelia
  6. Sirenomelia
A
  1. Shortening of the distal segment of a limb
  2. Shortening of the middle segment of a limb
  3. Shortening of the entire limb
  4. Absent long bones with hands/feet arising from shoulders/hips
  5. Shortening of the proximal segment of a limb
  6. Fusion of the legs
19
Q
  1. Syndactyly
  2. Arthrogryposis
  3. Clinodactyly
  4. Sandal gap
A
  1. Fusion of digits (webbed toes)
  2. Limited fetal limb motion due to joint contractures
  3. Deviation of a finger (absence of 5th mid phalynx)
  4. Abnormal gap btw 1st and 2nd toes
20
Q

Radial ray defect

A

Absent or underdevelopment of the radius.

Seen in trisomy 13 & 18 and other syndromes

21
Q

How is club foot recognized sonographically?

A

When the metatarsals and the toes lie in the same place as the tibia and fibula

22
Q

Amniotic bands vs Synechia

A

Amniotic bands are thin, free floating and can be associated with limb amputation.
Synechia are thick linear adhesions

23
Q

At what gestational age is the distal femoral epiphysis visible sonographically?

A

33 weeks