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OB2 > Ch. 65 > Flashcards

Ch. 65 Flashcards

1
Q

Skeletal dysplasia

A

Term used to describe abnormal growth and density of cartilage and bone

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2
Q

Refers to disproportionately short stature

A

Dwarfism

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3
Q

Dwarfism occurs secondary to

A

Skeletal dysplasia

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4
Q

True or false

Some skeletal dysplasia are incompatible with life

A

True

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5
Q

Lethal forms of skeletal dysplasia are _ in prenatal forms

A

Extremely severe

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6
Q

Non-lethal skeletal dysplasias tend to manifest in __ forms

A

Milder

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7
Q

When a skeletal dysplasia is suspected the protocol should be to include

A
  1. Assess limb shortening
  2. Assess bone contour
  3. Estimate degree of ossification
  4. Evaluate TC and shape
  5. Survey for coexistence hand and foot anomalies
  6. Evaluate face and profile
  7. Survey other associated anomalies
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8
Q

Skeletal dysplasia is suspected when

A

limb lengths fall more than 2 standard deviations below the mean

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9
Q

Rhizomelia

A

Shortening of the proximal bone segment (humerus and femur)

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10
Q

Mesomelia

A

Shortening of the middle segments (radius/ulna and tibia/fibula)

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11
Q

Micromelia

A

Shortening of the entire extremity

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12
Q

Most common lethal skeletal dysplasia

A

Thanatophoric dysplasia

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13
Q

Term thanatophoric comes from Greek word _ meaning _

A

Thanatos

Death personified

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14
Q

Thanatophoric dysplasia Type 1

A

Short, curved femurs, flat vertebral bodies

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15
Q

Thanatophoric dysplasia Type 2

A

Short, straight femurs, flat vertebral bodies, cloverleaf skull

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16
Q

Clover leaf skull aka

A

Kleeblattschadel

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17
Q

Thanatophoric dysplasia: Why do most infants die shortly after birth

A

Due to pulmonary hypoplasia resulting from a narrow thorax

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18
Q

Sono: thanatophoric dysplasia (10)

A 
Severe micromelia
Cloverleaf skull
Narrowed thorax w/ shortened ribs
Protuberant abdomen
Frontal bossing
Hypertelorism
Flat vertebral bodies (platyspondlyly)
Severe polyhydramnios 
Hydrocephalus
Non immune hydrops
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19
Q

Most common non lethal skeletal dysplasia

A

Achondroplasia

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20
Q

Achondroplasia results from _ which _

A

decreased endochondral bone formation

produces short, squat bones

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21
Q

Causes of achondroplasia

A

Most commonly: results from spontaneous mutation

  • can be transmitted in autosomal fashion
  • advanced paternal age increases the risk
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22
Q

Heterozygous achondroplasia is inherited _

A

By one parent

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23
Q

Heterozygous achondroplasia has _ survivable rates

A

Good

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24
Q

Intelligence and life span of heterozygous achondroplasia

A

Normal

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25
Q

Health problems that may be included with heterozygous achondroplasia are _ and may require _

A

Neurological complications

May require orthopedic of neurological surgical intervention

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26
Q

Homozygous achondroplasia is inherited by

A

2 parents

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27
Q

Homozygous achondroplasia is (mortality)

A

Lethal

Most infants die shortly after birth

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28
Q

Why do most infants with homozygous achondroplasia die shortly after birth

A

Respiratory complications

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29
Q

With homozygous achondroplasia the thorax is

A

Narrow

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30
Q

Sono achondroplasia

A 
o Rhizomelia
o macrocephaly
o Trident hands [short proximal & middle phalanges] 
o Depressed nasal bridge
o Frontalbossing
o Mild ventriculomegaly
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31
Q

Achondrogenesis

A

Rare
Caused by cartilage abnormalities which result in abnormal bone formation &
hypomineralization

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32
Q

Achondrogenesis type 1

A

Most severe

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33
Q

Achondrogenesis type 1 Is transmitted in

A

Autosomal recessive mode

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34
Q

Achondrogenesis type 2

A

Less severe

More common

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35
Q

Achondrogenesis type 2 result of

A

Spontaneous mutation

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36
Q

Achondrogenesis is _ (mortality)

A

Lethal

Infants either being stillborn or die shortly after birth

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37
Q

Why is achondrogenesis lethal

A

Pulmonary hypoplasia

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38
Q

Sono achondrogenesis

A 
o Severe micromelia *
o Decreased or absent ossification of the spine
oMacrocephaly*
o Short trunk
o Short thorax & short ribs
o Micrognathia*
o Polyhydramnios
o Hydrops possibly identified
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39
Q

Osteogenesis Imperfecta

A 
Rare disorder of collagen leading to brittle bones Manifestation in teeth skin ligaments
Blue sclera (blue tint to the whites of the eyes)
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40
Q

Osteogenesis Imperfecta: mildest forms

A

1 & 4

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41
Q

Osteogenesis Imperfecta: autosomal dominant transmission

A

Types 1 & 4

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42
Q

Osteogenesis Imperfecta: Transmitted in autosomal-dominant or autosomal-recessive manner

A

Type 3

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43
Q

Osteogenesis Imperfecta: Most severe/lethal

A

Type 2

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44
Q

Osteogenesis Imperfecta: Inherited autosomal dominant or autosomal recessive or may result from spontaneous mutation

A

Type 2

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45
Q

Normal ossification should be done by

A

18 weeks

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46
Q

Osteogenesis imperfecta:
Prognosis:
Children with type 1 &4

A

May be short (stature)

Multiple fractures

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47
Q

Osteogenesis imperfecta:
Prognosis:
Type 1

A

May also suffer from kyphoscoliosis & deafness

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48
Q

Osteogenesis imperfecta:
Prognosis:
Type 3

A

May produce significant handicaps

Due to the severity of the brittle bones and multiple fracture

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49
Q

Osteogenesis imperfecta:
Prognosis:
Type 2

A

Die shortly after birth

Due to respiratory complications

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50
Q

Sono: osteogenesis imperfecta

A

Increased nuchal translucency in the 1st trimester
Compressible skull bones
Multiple fractures leaves bones bowed, thickened, or sharply angulated
Polyhydramnios

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51
Q

Sono: osteogenesis imperfecta specifically type 2

A

Generalized hypomineralization of bones, especially the skull

Multiple fractures of:
Long bones
Ribs
Spine

▪Narrow thorax
▪Micromelia

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52
Q

Congenital Hypophosphatasia

A

Diffuse hypomineralization of bone

53
Q

Congenital Hypophosphatasia: caused by

A

alkaline phosphatase deficiency

54
Q

Congenital Hypophosphatasia: diagnosis is confirmed with

A

an alkaline phosphatase assay achieved through any of these means:
▪Fetal blood sampling
▪chorionic villus sampling
▪DNA analysis

55
Q

Congenital Hypophosphatasia is a _ condition

A

Inherited Autosomal-recessive

56
Q

Congenital hypophosphatasia has similar features to _ & _

A

Osteogenesisi imperfecta and achondrogenesis

57
Q

Congenital hypophosphatasia: Prognoisis

A

Lethal

Infants usually die shortly after birth due to respiratory complications

58
Q

Sono: Congenital hypophosphatasia

A 
Diffuse hypomineralization of the bones
Moderate to severe micromelia
Extremities that may be:
▪Bowed
▪Fractured
▪Absent
Poorly ossified cranium with well visualized brain structures
Small thoracic cavity
59
Q

Diastropic Dysplasia is characterized by

A 
Micromelia
Talipes
Cleft palate
Micrognathia
Scoliosis
Short stature
Earlobe deformities
Hand abnormalities
60
Q

Diastropic Dysplasia is a _ disorder

A

Inherited autosomal recessive

61
Q

Diastropic Dysplasia: prognosis

A

Not lethal disorder

Respiratory complications
Orthopedic abnormalities can cause significant handicap

62
Q

Diastropic Dysplasia: prognosis:

Most patients have _ life span and _ intelligence

A

Normal

Normal

63
Q

Sono: Diastropic Dysplasia

A 
Micromelia
Clubfoot
Fixed abducted thumb (hitch hiker thumb)*
Scoliosis
Micrognathia
Cleft palate
64
Q

Camptomelic Dysplasia AKA

A

Bent bone dysplasia

65
Q

Camptomelic Dysplasia is characterized by

A

Bowing of the long bones

66
Q

Camptomelic Dysplasia is a _ mutation

A

spontaneous

67
Q

Camptomelic Dysplasia is a _ disorder

A

Inherited autosomal-recessive pattern

68
Q

prognosis:

Mosy infants _ due to _.

A

Lethal
die in neonatal period
pulmonary hypoplasia

69
Q

Camptomelic Dysplasia: Infants that do survive usually die _

A

within the first year of life

70
Q

Sono: Camptomelic Dysplasia

A 
Bowing of the long bones (lower ext. most severely)
Small thorax
Hypoplastic fibulas
Hypoplastic scapulae
Hypertelorism
Cleft palate
Micrognathia
Clubfoot
Hydrocephalus
Polyhydramnios
Hydronephrosis
71
Q

Roberts syndrome AKA

A

pseudothalidomide syndrome

72
Q

Roberts syndrome is characterized by

A

Phocomelia

Facial anomalies

73
Q

Phocomelia

A

Absent segment of an extremity

Hands and feet are attached to the body like flippers

74
Q

Roberts syndrome is a _ disorder

A

Autosomal-recessive disorder

75
Q

Roberts syndrome may present with

A

associated chromosomal abnormalities

76
Q

Roberts syndrome:
Prognosis
_ is common
Survivors are _

A

Poor

Stillbirth & infant mortality

growth restricted & have severe mental retardation

77
Q

Sono Roberts syndrome

A

Phocomelia with the upper extremities more severely affected
Bilateral cleft lip & palate
Hypertelorism
Microcephaly
Cardiovascular, renal & GI anomalies may be present

78
Q

Short-Rib Polydactyly Syndrome Prognosis
Most infants _
due to _

A

Lethal

die shortly after
birth

pulmonary hypoplasia

79
Q

Short-Rib Polydactyly Syndrome characterized by

A

Short ribs
Short limbs
Polydactyly

80
Q

Short-Rib Polydactyly Syndrome is a_ disorder

A

Inherited autosomal-recessive disorder

81
Q

Sono: short rib polydactyly

A 
Narrow thorax 
Short ribs
Polydactyly
Midline facial cleft
CNS anomalies
Cardiovascular system anomalies
GU tract anomalies
Polyhydramnios
82
Q

Jeune’s Syndrome AKA

A

asphyxiating thoracic dysplasia

83
Q

Jeune’s Syndrome characterized by

A

Very narrow thorax

84
Q

Jeune’s Syndrome is a _ disorder

A

inherited autosomal-recessive disorder

85
Q

Sono: Jeunes syndrome

A

Small thorax
Rhizomelia
Renal dysplasia*
Polydactyly (less common)

86
Q

Jeunes _ of severity.

Most severe results in _

A

Range

death due to pulmonary hypoplasi

87
Q

Ellis-Van Creveld Syndrome AKA

A

chondroectodermal dysplasia

88
Q

Increased frequency among Amish communities

A

Ellis-Van Creveld Syndrome

89
Q

Ellis-Van Creveld Syndrome is a _ disorder

A

Inherited autosomal-recessive disorder

90
Q

Ellis-Van Creveld Syndrome: presents with

A

Narrow thorax-causes pulmonary hypoplasia

Heart defects- most common is atrial septal defect (ASD)

91
Q

Ellis-Van Creveld Syndrome: about _ die during infancy due to _

A

half

cardiorespiratory complications

92
Q

Features of Ellis-Van Creveld Syndrome

A 
Narrow thorax
heart defects
Abnormal teeth
Hypoplastic nails
Thin hair
93
Q

Ellis-Van Creveld Syndrome: Survivors have _ intellect and _ stature

A

Normal

Short

94
Q

Sono:

Ellis-Van Creveld Syndrome

A

Limb shortening
Narrow thorax
Polydactyly
Heart defects [50%

95
Q

Caudal regression

A

Range of malformations of the caudal end of the neural tube

96
Q

Caudal regression causes are

97
Q

Caudal regression is linked to

A

maternal diabetes

98
Q

Caudal regression: prognosis

A

Depends on severity

99
Q

Sono: caudal regression

A 
Absent sacrum and coccyx
Clubfoot
Abnormal lumbar vertebrae
Pelvic abnormalities
Contractures
Decreased movement of lower extremities
100
Q

Sirenomelia AKA

A

Mermaid syndrome

101
Q

Sirenomelia is

A

fusion of the lower extremities

102
Q

_ was considered an extreme form of caudal regression syndrome

A

Sirenomelia

103
Q

Sirenomelia cause _
Associated with _
May divert blood flow away from _

A

Vascular hypotension
Single umbilical artery
The caudal end

104
Q

Sirenomelia associated with

A

Diabetes
Monozygotic twinning
Cocaine use

105
Q

Sirenomelia is more common in

106
Q

Sirenomelia:
Prognosis
due to _

A

Lethal

associated severe renal anomalies (b/l renal agenesis that results in oligohydramnios and pulmonaary hypoplasia)

107
Q

Sono: sirenomelia

A

Variable fusion of the lower extremities
b/l renal agenesis*
Oligohydramnios
Single umbilical artery

108
Q

VACTERL assocaition

A 
Vertebral defects
Anal atresia
Cardiac anomalies
Tracheoesophageal fistula
Renal anomalies
Limb dysplasia
109
Q

VACTERL is a _ event

110
Q

For VACTERL to be considered, _ must be present

A

3 anomalies

111
Q

With VACTERL, _ may be identified

A

single umbilical artery

112
Q

VACTERL-H

A

Hydrocephalus

113
Q

Athrogryposis Multiplex Congenita _ due to _

A

Severe contractures of extremities

Abnormal innervation and disorders of muscles and connective tissues

114
Q

Contracture

A

shortening and hardening of muscles, tendons, or other tissue, often leading to deformity and rigidity of joint

115
Q

Athrogryposis Multiplex Congenita may be _ (occurence)

A

inherited or spontaneous

116
Q

Sono: Athrogryposis Multiplex Congenita

A 
Rigid extremities
Flexed arms
Hyperextension of the knees
Clenched hands
Clubfoot
Polyhydramnios or oligo
Anomalies of the CNS
Other facial & renal anomalies
Fetal seizures have been seen
117
Q

_ & _ anomalies occur with skeletal dysplasia. May be _ or _

A

Hand and foot

part of a syndrome or isolated event

118
Q

Misc. limb abnormalities:

_ defects may be seen. May be associated with

A

Amputation

Amniotic band syndrome

119
Q

Amelia

A

Congenital absence of one or more extremities

120
Q

Syndactyly

A

Fused digits

121
Q

Clindodactyly

A

Overlapping digits

122
Q

Ectrodactyly

A

split hand/ Lobster claw deformity

123
Q

Radial ray defects

A

Hypoplasia or aplasia of the radius and thumb

124
Q

Radial ray defects are associated with

A

Chromosomal abnormalities (13 & 18)
VACTERL association
Holt-Oram syndrome
Thrombocytopenia w/ absent radi syndrome

125
Q

Talipes AKA

126
Q

Talipes

A

deformity of the foot and ankle

127
Q

Talipes: _ predominance

128
Q

Rocker bottom foot

A

Prominent heel and convex sole

129
Q

Rocker bottom foot is associated with

A

multiple syndromes

chromosomal abnormalities especially trisomy 18

OB2 (7 decks)

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