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CNIH > Abnormal MSK PT 2 > Flashcards

Abnormal MSK PT 2 Flashcards

1
Q

4 kinds of skeletal dysplasia disorders? (order from most lethal to nonlethal)

A

Thanatophoric dysplasia
Achondrogenesis
Osteogenesis imperfecta
Achondroplasia

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2
Q

What is the most common lethal skeletal dysplasia?

A

Thanatophoric dysplasia

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3
Q

what is the most common nonlethal skeletal dysplasia?

A

Achondroplasia

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4
Q

Achondroplasia?

- what will be seen?

A
  • Most common non-lethal
  • Autosomal dominant

seen:

  • Rhizomelic shortening (may not be recognized until 3rd trimester
  • Mild limb bowing
  • Exaggerated lumber lordosis
  • Enlarged head (macrocephaly)
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5
Q

What are the main characteristics of Achondroplasia? (5)

A
  • Bones of hand and feet are short (trident hand)
  • Frontal bossing
  • Mid face hypoplasia
  • Flattened nasal bridge
  • Broad mandible
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6
Q

What is Homozygous achondroplasia?

A
  • Early shortening of femurs (3rd percentile at 14-16 weeks)

- Lethal in the 1st two years of life

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7
Q

trident hand?

A

bones of hand and feet are short

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8
Q

what is achondroplasia associated with? (5)

A
  1. trident hand
  2. frontal bossing
  3. mild face hypoplasia
  4. flattened nasal bridge
  5. broad mandible
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9
Q

what is homozygous achondrioplasia?

A
  • early shortening of femurs

- letal in 1st 2 years of life

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10
Q

Heterozygous achondroplasia affects?

A
  • affected later in pregnancy
  • compatible with a normal life and intellectual development
  • shortening of probimal limbs
  • short fingers and toes
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11
Q

heterozygous achondrioplasia presents as?

A
  • large head with prominent forehead
  • small midface with flattened nasal bridge
  • spinal kyphosis or lorgosis
  • varus or valgus deformitites
  • ear infections
  • sleep apnea
  • hydrocephalus
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12
Q

What is Hypochondroplasia?

A

Autosomal dominant
Resembles achondroplasia but features are milder
- Sparing of the head
- Lack of tibial bowing

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13
Q

What is Hypochondroplasia?

A

Autosomal dominant
Resembles achondroplasia but features are milder
- Sparing of the head
- Lack of tibial bowing

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14
Q

what is Thanatophoric dwarfism characterized by?

A
  • Extremely short limbs
  • Folds of extra (redundant) skin on the arms and legs
  • Narrow chest
  • Short ribs
  • Underdeveloped lungs
  • Enlarged head with a large forehead
  • Prominent, wide-spaced eyes.
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15
Q

what is Thanatophoric dwarfism characterized by?

A
  • Extremely short limbs
  • Folds of extra (redundant) skin on the arms and legs
  • Narrow chest
  • Short ribs
  • Underdeveloped lungs
  • Enlarged head with a large forehead
  • Prominent, wide-spaced eyes.
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16
Q

thanatophoric dysplasia, type I and type II?

A

Type I - thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly)

Type II - thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull

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17
Q

what occurs when Infants have thanatophoric dysplasia?

A

usually stillborn or die shortly after birth from respiratory failure

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18
Q

What is the most common lethal skeletal dysplasia?

A

Thanatophoric Dysplasia

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19
Q

what is Thanatophoric Dysplasia?

A 
Most common lethal skeletal dysplasia
Severe micromelia
Severe thoracic dysplasia
Polyhydramnios
Cloverleaf skull deformity
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20
Q

what is Platyspondyly?

A
  • a radiographic feature and refers to flattened vertebral bodies throughout the axial skeleton
  • significant narrowing of the chest and prominent abdomen
  • most common spinal abnormality in skeletal dysplasias
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21
Q

what is Achondrogenesis?

A
  • 2nd most common lethal skeletal dysplasia

- most severe degree of limb shortening

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22
Q

Achondrogenesis type I?

A

Is inherited autosomal recessive
more severe form

characterized by:

  • Inadequate ossification of the skull, spine, and pelvis
  • Extensive shortening of tubular bones
  • Multiple rib fractures
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23
Q

Achondrogenesis type II?

A
  • autosomal doninant

-characterized by various degrees of calcification of the pelvis, skull, and spine
Without rib fractures

  • Most type II cases are sporadic (new autosomal dominant mutations).
24
Q

Achondrogenesis sono features?

A
  • Short femur length measurement: often well below the 5thpercentile
  • The femur length (FL) to biparietal diameter (BPD) is taken as a useful measurement
  • Trident hand and 4 fingers appearing separated and similar in length
  • Separation of 1stand 2nd, 3rdand 4thfingers
  • Protruding forehead:frontal bossing
25
Q

two conditions most commonly associated with hypomineralization of the spine?

A

achondrogenesis type I and hypophosphatasia

26
Q

Hypomineralized Bone?

A
  • subject to fractures and typically appears less echogenic than normal.
  • Hypomineralization of the spine is characterized by decreased echogenicity and attenuation of the vertebrae and enhanced visualization of the spinal cord
27
Q

Hypomineralization of the skull is characterized by?

A
  • decreased echogenicity and attenuation of the cranium (skull appears less echogenic or isoechoic to the falx echo).
  • With normal bone ossification, shadowing is normally seen behind the fetal head.
28
Q

Hypomineralization of the skull is characterized by?

A
  • decreased echogenicity and attenuation of the cranium (skull appears less echogenic or isoechoic to the falx echo).
  • With normal bone ossification, shadowing is normally seen behind the fetal head.
29
Q

Osteogenesis imperfecta?

A
  • congenital bone disorder characterized by brittle bones that are prone tofracture
  • born with defectiveconnective tissue or without the ability to make it, usually because of a deficiency oftype I collagen
30
Q

Osteogenesis imperfecta- type 1?

A

Blue sclera
Hyper laxity of ligaments and skin
Hearing impairment
No prenatal deformities

31
Q

Osteogenesis imperfecta- type 2?

A 
Lethal
No ossification of the skull
Beaded ribs
Shortened and crumpled long bones	
Multiple fractures
Thoraxis short but not narrow
32
Q

most common anomaly associated with fetal fractures?

A

Osteogenesis imperfecta

33
Q

Caudal Regression Syndrome?

A
  • A disorder that impairs the development of the lower (caudal) half of the body
  • Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
34
Q

Caudal Regression Syndrome?

A
  • A disorder that impairs the development of the lower (caudal) half of the body
  • Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
35
Q

what is frog leg position and what is it seen in?

A
  • legs are bent with the knees pointing out to the side and the feet tucked underneath the hips
  • associated with caudal regression syndrome
36
Q

what is calcaneovalgus?

A
  • feet turned outward or upward
37
Q

Sirenomelia?

A

Sirenomelia, alternatively known asMermaid Syndrome, is a very rarecongenital deformityin which the legs are fused together

38
Q

sirenomelia prognosis? and associated with?

A

Usually fatal within a day or two of birth because of complications associated with abnormalkidney andurinary bladderdevelopment and function

39
Q

what does sirenomelia result from?

A
  • failure of normal vascular supply from lower aorta in utero
40
Q

Amniotic Band Syndrome?

A

group of congenital birth defects believed to be caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero

41
Q

Camptomelic Dysplasia?

A
  • AKA bent bone
  • group of lethal skeletal dysplasias characterized by bowing of long bones
  • occurs in 1 per 150,000 births
  • Lethal anomaly
  • Most infants die in neonatal period because of pulmonary hypoplasia
  • Infants surviving neonatal period usually die within first year of life.
42
Q

Camptomelic Dysplasia sono features?

A 
Bowing of long bones with lower extremities affected most severely 
Small thorax
Hypoplastic fibulas
Hypoplastic scapulae
Hypertelorism
Cleft palate
Micrognathia
Talipes 
Hydrocephalus
Polyhydramnios
Hydronephrosis
43
Q

Roberts Syndrome?

A

Rare condition characterized by phocomelia and facial anomalies
Autosomal-recessive disorder
Also known as pseudothalidomide syndrome
May present with associated chromosomal abnormalities

44
Q

Roberts Syndrome prognosis?

A

Prognosis poor
Stillbirth and infant mortality common
Survivors are growth-restricted and have severe mental retardation

45
Q

roberts syndrome sono findings?

A

Phocomelia, with upper extremities more severely affected
Bilateral cleft lip and palate
Hypertelorism
Microcephaly
Cardiovascular, renal, and gastrointestinal anomalies may be identified

46
Q

Ellis–van Creveld Syndrome?

A

Is also known as chondroectodermal dysplasia
Prevalence is 1 in 60,000 births.
Increased frequency in Amish community estimated to be up to 1 in 5000 births
Is inherited in autosomal-recessive pattern

47
Q

Ellis–van Creveld Syndrome?

A

Is also known as chondroectodermal dysplasia
Prevalence is 1 in 60,000 births.
Increased frequency in Amish community estimated to be up to 1 in 5000 births
Is inherited in autosomal-recessive pattern

48
Q

Ellis–van Creveld Syndrome presentation?

A

Narrow thorax, causing pulmonary hypoplasia

Heart defects, the most common of which is atrial septal defect (ASD)

49
Q

Ellis–van Creveld Syndrome sono features?

A

Limb shortening
Narrow thorax
Polydactyly
Heart defects (50%)

50
Q

Radial Ray Anomaly?

A

deficiency of the radius with or without accompanyingdeficiencyof the thumb bones

51
Q

Polydactyly?

A

Refers to hand or foot with more than five digits.

Most commonly associated with Tri-13 and Meckel-Gruber Syndrome (encephalocele, polydactyly and renal cystic dysplasia)

52
Q

Clinodactyly?

A

Refers to inward curvature of the fifth digit of the hand and is due to hypolasia or the mid phalanx of the 5th digit.
Tri-21: 61%

53
Q

Persistently clenched hand with overlapping fingers common finding with?

A

Tri- 18

54
Q

Trident Hand?

A

Atrident hand- the hands are short with stubby fingers, witha separation between the middle and ring fingers.
Associated with variouschondrodysplasiasincludingachondroplasia.

55
Q

Syndactyly

A

congenital fusion of two or more digits

56
Q

triplpidy tend to affect?

A

3rd and 4th digits of hand

CNIH (69 decks)

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