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test 4 Flashcards

1
Q

what are the 2 tissues that skeleton is composed of?

A
  • bone

- cartilage

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2
Q

what are the cell types of the skeleton?

A
  • osteoblasts
  • osteoclasts
  • chrondrocytes
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3
Q

what are the 3 embryonic cell linages?

A
  • cranial neural crest cells
  • paraxial mesoderm cells or somites
  • lateral plate mesoderm
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4
Q

what is formed from the cranial nural crest cells?

A

craniofacial skeleton

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5
Q

what is formed from the paraxial mesoderm cells or somites?

A

axial skeleton

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6
Q

what is formed from the lateral plate mesoderm?

A

responsible for limb formation

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7
Q

when do limb buds begin to develop?

A

during the 4th week of embryonic life (th mentral week)

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8
Q

do the upper limbs or lower limbs form first?

A

upper limbs do (bud appearance, develpment, differentiation and establishment of final relative limb size)

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9
Q

what is the order of development of the fetal limbs?

A
  1. humerus and femur
  2. radius, ulna, tibia, and fibula
  3. metacarpal and metatarsal bones
  4. phalanges
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10
Q

what are the 4 steps of skeltognesis?

A
  • patterning
  • organogenesis
  • growth
  • homeostasis
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11
Q

what is patterning?

A

final size, shape, number and arrangment of bones are determined

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12
Q

what is organogenesis?

A

bone and cartillage are formed

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13
Q

what is homeostasis?

A

the tendency of the body to seek and maintain a condition of balance or equilibrium within its internal environment, even when faced with external changes

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14
Q

where are the long bones measured?

A

between the distal and proximal ossification centers

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15
Q

what should the cardio-thoracic circumference be less than throughtout gestation?

A

slowly increases through gestation but should always be less than 0.5

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16
Q

why may cardio-thoracic circumferance be increased?

A

cardiac=fetal cardiomegaly

thoracic=pulmonary hypoplasia

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17
Q

what is the thoracic/abdominal circumferance after 20 weeks?

A

> 0.8

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18
Q

what are the indications for careful survey of the fetal skeleton?

A
  • fam history with a known genetic risk

- detection of a fetal anomaly during a routine OB study

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19
Q

what is skeletal dysplasia?

A

medical term for what most people refer to as “dwarfism” It is am umbrealla term for a group of hundreds of conditions affecting bone and cartilage growth

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20
Q

a child born with skeletal dysplasia will have an abnormal difference in what?

A

shape of:

  • legs
  • arms
  • trunk
  • skull
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21
Q

how is classification of skeletal dysplasia made?

A

underlyinh molecular abnormalities

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22
Q

what is prenatal sonographic diagnosis of skeletal dysplasia centered on?

A

combinations of abnormal finding of the limbs, rib cage, skull, and spine

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23
Q

what is the most common severe skeletal dysplasia manifest with?

A
  • severe micromelia (shortening of all limbs)

- variabel degrees of thoracic dysplasia

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24
Q

what is the most common way skeletal dysplasia is detected?

A

measurment of FL

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25
Q

what does it mean when FL is 1-4 mm below 2 SD point?

A

further serial measurments are required to determine if a skeletal dysplasia is present

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26
Q

what does it mean when FL is 5mm below the 2 SD point?

A

there is a high liklihood of skeletal dysplsia

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27
Q

what is used to determine skeletal dysplasia versus severe IUGR?

A

femur length to feet length ratio

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28
Q

what does the femur length and foot length ratio tell us with sever IUGR?

A

femur length is abnormally small however the femur length to foot length ratio remains essentially normal

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29
Q

what does the femur length and foot length ratio tell us with skeletal dysplasia?

A

the femur length to foot length ratio decreases, since foot length is unaffected and the femur is shortened to different angles

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30
Q

what are the 4 patterns of shortnening of the long bones?

A
  • rhizomelia
  • mesomelia
  • acromelia
  • micromelia
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31
Q

what is rizomelia?

A

shortening of proximal segment (femur, humerus)

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32
Q

what is mesomelia?

A

shortnening of middle segment (radius, ulna, tibia, fibula)

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33
Q

what is acromelia?

A

shortnening of distal segment (hands and feet)

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34
Q

what is micromelia?

A

shortnening of entire limb (mild, mild/bowed, severe)

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35
Q

with skeletal dysplasia, severe ________ are lethal

A

micromelia

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36
Q

what is thoracic dysplasia associated with?

A

abnormally snall misshapen chest and is associated with pulmonary hyperplasia

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37
Q

what is frontal bossing?

A

the development of an unusually pronounced forehead which may also be associated with a heavier than normal brow ridge

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38
Q

what causes frontal bossing?

A

enlargement of frontal bone

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39
Q

what is the most common LETHAL skeletal dysplasia?

A

thanatophoric dysplasia

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40
Q

what is the most common NONLETHAL skeletal dysplasia?

A

achondroplasia

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41
Q

what are the prevalance of disorders of muscoskeletal?

A
  • Thanatophoric dysplasia
  • Achondrogenesis
  • Osteogenesis imperfecta
  • Achondroplasia
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42
Q

what disroders are caused by different lutations in the fibroblast growth factor receptor 3 gene?

A
  • Achondroplasia
  • Hypochondroplasia
  • Thanatophoric dwarfism
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43
Q

achondroplasia is autosomal ___________

A

dominant

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44
Q

what is associated with achondroplasia?

A
  • Rhizomelic shortening
  • mild limb bowing
  • exaggerated lumbar lordosis
  • enlarged head
  • bones of hand and feet are short (trident hand)
  • frontal bossing
  • mid face hypoplasia
  • flattened nasal bridge
  • broad mandible
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45
Q

what is homozygous achondroplasia?

A

early shortnening of femurs

-letal in first 2 years of life

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46
Q

what is associated with heterozygous achondroplasia?

A
  • short fingers and toes
  • large head with prominent forehead
  • small midface with a flattened nasal bridge
  • spinal kyphosis or lordosis
  • varus ir valgus
  • ear infections
  • sleep apnea
  • hydrocephalus
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47
Q

what is spinal kyphosis?

A

convex curvature

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48
Q

what is spinal lordosis?

A

concave curvature

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49
Q

what is varvus?

A

bow leg

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50
Q

what is valgus?

A

knock knee

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51
Q

why does macrocephaly occur?

A

large head associated with hydrocephalus due to obstruction at the level of the foramen magnum

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52
Q

at what gestatinal age might the shortened limbs be detected?

A

varies between 21-27 weeks

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53
Q

hypochondroplasia is autosomal __________

A

dominant

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54
Q

what does hypochondroplasia resemble?

A

achondroplasia but features are milder

  • sparing of the head
  • lack of tibial bowing
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55
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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56
Q

what is type 1 of Thanatophoric dwarfism?

A

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

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57
Q

what is type 2 of Thanatophoric dwarfism?

A

straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull

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58
Q

do most infants with Thanatophoric dwarfism survive?

A

no

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59
Q

what is associated with Thanatophoric Dysplasia?

A
  • severe micromelia
  • severe thoracic dysplasia
  • polyhydramnois
  • cloverleaf skull deformity
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60
Q

what are additional findings of Thanatophoric Dysplasia?

A
  • Ventriculomegaly
  • Macrocranium
  • Cerebellar hypoplasia
  • Prominent forehead
  • Saddle nose
  • Hypertetorism
  • Short ribs
  • Platyspondyly
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61
Q

what is Platyspondyly?

A

a radiographic feature and refers to flattened vertebral bodies throughout the axial skeleton

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62
Q

what is the most common spinal abnormality?

A

skelteal dysplasia

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63
Q

what does Thanatophoric Dysplasia look like?

A

significant narrowing of the chest and prominent abdomen

  • shortened bowed limbs
  • narrow thorax with short ribs
  • large head
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64
Q

what is the 2nd most common lethal skeltal dysplasia?

A

achondrogenesis

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65
Q

what has the most severe degree of limb shortnening?

A

achondrogenesis

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66
Q

how is achondrogenesis type 1 characterized?

A
  • inadequate ossification of the skull, spine, and pelvis
  • extensive shortnening of tubular bones
  • multiple rib fractures
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67
Q

how is achondrogenesis type 2 characteried?

A
  • various degrees of calcification of the pelvis, skull, and spine
  • without rib fractures
  • most type 2 cases are sporadic (new autosomal dominant mutations)
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68
Q

which achondrogenesis is autosomial dominant and whic is recessive?

A

recessive=type 1

dominant=type 2

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69
Q

what are the sonographic features of Achondrogenesis?

A
  • short femur length (below 5th percentile)
  • trident hand and 4 fingers appearing separated and similar in length
  • protruding forehead (frontal bossing)
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70
Q

what is taken as a useful measurement for Achondrogenesis?

A

femur length (FL) to biparietal diameter (BPD)

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71
Q

what is Hypophosphatasia?

A

an inherited disorder that affects the development of bones and teeth (disupts mineralization)

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72
Q

what are infants affected with Hypophosphatasia born with?

A
  • short limbs
  • abnormally shaped chest
  • soft skull bones
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73
Q

with Hypophosphatasia the spine is usually ______________

A

hypomineralized

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74
Q

what are the 2 conditions most commonly associated with hypomineralization of the spine?

A

achondrogenesis type 1

hypophosphatasia

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75
Q

what is not affected with achondrogensis type 1?

A

skull

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76
Q

what does hypomineralized look like?

A

less echogenic than normal and attenuation of the vertebrae and enhanced visualiation of the spinal cord

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77
Q

what is osteogenesis imperfecta?

A

a congenital bone disorder characterized by brittle bones that are prone to fracture

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78
Q

what is associated with osteogenesis imperfecta type 1?

A
  • blue sclera
  • hyper laxity of ligaments and skin
  • hearing impairment
  • no prenatal deformities
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79
Q

what is associated with osteogenesis imperfecta type 2?

A
  • lethal
  • no ossification of the skull
  • beaded ribs
  • shortnened and crumpled long bones
  • multiple fractures
  • throaxis short but not narow
80
Q

what is the most common anomaly associated with fetal fractures?

A

Osteogenesis imperfecta

81
Q

what is caudal regression syndrome?

A

a disorder that impairs the development of the lower (caudal) half of the body

82
Q

what are the affected areas with caudal regression syndrome?

A

lower back and limbs
genitourinary tract
gastrointestinal tract

83
Q

what happens with the spinal system with caudal regression syndrome?

A

the bones of the lower spine (vertebrae) are frequently misshapen or missing and the corresponding sections of the spinal cord are irregular or missing
-may have scoliosis

84
Q

what are the abnormalties associated with caudal regression syndrome?

A
  • spine
  • affect size and shape of chest making it hard to breathe
  • small hip bones
  • undeveloped bones in legs
  • frog like postion
  • inward and upward turning feet (clubfeet) or calcaneovagus
85
Q

what are genital abnormalities in males with caudal regression?

A
  • urethra opening on the underside of the penis (hypospadia)

- cryptorchidism

86
Q

what are the genital abnormalities in females with caudal regression?

A

an abnormal connection between the rectum and vagina (rectovaginal fistula)

87
Q

what are the malformations of the GI tract in caudal regression?

A
  • abnormal twisting (malrotation) of the large intestine
  • obstruction of the anal opening (imperforate anus)
  • soft out pouchings in the lower abdomen (inguinal hernias)
88
Q

what are defects with the kidney in caudal regression?

A
  • unilateral renal agenesis
  • horseshoe kidney
  • ureteral duplication
89
Q

what is sirenomelia also known as?

A

mermaid syndrome

90
Q

what is sirenomelia?

A

very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaids tail

91
Q

do infants usually survive with sirenomelia?

A

usually fatal with a day or two due to complications with abnormal kidney and urinary bladder development and function

92
Q

how does sirenomelia usually result?

A

failure of normal vascular supply from the lower aorta in utero

93
Q

what is amniotic band syndrome?

A

group of congenital birth defects believed to be caused by entrapment of fetal parts in fibrous amniotic bands while in utero

94
Q

what is the exogenous theory for amniotic band syndrome?

A

an early disruption of the amnion allows the embryo or fetus to enter the chorionic cavity and contact the chorionic side of the amnion leading to fibroud bands, which entrap the fetal body components

95
Q

what is the endogenous theory for amniotic band syndrome?

A

occurs as a result of vascular compromise, mesoblastic strings are not a casual agent

96
Q

what are detectable anomalies of the hand?

A
  • absent hand
  • absent digits
  • extra digits
  • unusual curvature of the digits
  • abnormal flexion of the hand
97
Q

what is radial ray anomaly?

A

compromise of a large spectum of upper limb anomalies which range from partial (radial hypoplasia) to a complete (radial aplasia) deficiency of the radius with or without accompanying deficiency of the the thumb bones

98
Q

what is polydactyly?

A

refers to hand or foot with more than 5 digits

99
Q

what is polydactyly most commonly associated with?

A

tri-13 and meckel-gruber syndrome

100
Q

what is clinodactyly?

A

inward curvature of the 5th digit of the hand and is due to hypoplsia or the mid phalanx of the 5th digit

101
Q

what is clinodactyly associated with?

A

tri-21 (61%)

102
Q

what is a common finding with Tri-18?

A

persistently clenched hand with overlapping fingers

103
Q

what is a clenched hand associated with?

A
  • trisomy 18
  • trisomy 13
  • pena-shokeir syndrome
  • smith-lemli-opitz syndrome
104
Q

what is pena-shokeir syndrome?

A

autosomal recessive non aneuploidic condition with some clinical features being similar to that of trisomy 18. not often lethal

105
Q

what is smith-lemli-opitz syndrome?

A

a lack of cholesteral production as well as build up a potentially toxic by products of cholesterol production which accumulate in the blood and other tissues

106
Q

what is a trident hand?

A

the hands are short with stubby fingers, with a seperation between the middle and ring fingers

107
Q

what is trident hand associated with?

A

various chondrodysplasias including achondroplasia

108
Q

what is syndactyly?

A

refers to a congenital fusion of 2 or more digits

109
Q

what fingers does triploidy tent to affect?

A

3rd and 4th digits of the hands

110
Q

what are detectable abnormalities of the foot?

A
  • absent foot
  • absent toes
  • extra toes
  • club foot
  • rockerbottom foot
  • sandal foot
111
Q

what is the sonographic diagnosis of club foot?

A

when the plantar profile of the foot is seen in the same image that shows the long axis of the tibia and fibula

112
Q

what is club foot?

A

inverted, plantar-flexed, medially deviated foot results in the visualization of the long axis of the foot and tibia/fibula in the same plane

113
Q

what is rocker-bottom?

A

abnormal curvature of the pedal arch, it appears as a conves curvature (most commonly associated with Tri-18)

114
Q

what is sandle foot?

A

an apparent increase in the space between the great toe of the foot from the rest of the toes

115
Q

what is sandle foot associated with?

A

down syndrome

116
Q

fetal ascities is diagnosed when fluid is seen where?

A
  • between bowel loops
  • along the abdominal flanks
  • around the liver
  • outlining the abdominal visera
117
Q

what is solated ascites caused by?

A

obstructive urinary or gastrointestinal obstruction

118
Q

what does amniotic fluid outline in advanced ascites?

A
  • liver
  • spleen
  • small bowel
  • umbilical vein
  • falcifirm ligament
119
Q

what is pseudoascites?

A

small hyperechoic band (<2cm in thickness) extending along the anterior and lateral fetal abdomen

120
Q

what is a key feature in pseudoascites and ascites?

A

pseudoascites does not surround the liver and is always a subcutaeous finding whereas the true ascites will extend around bowel loops

121
Q

what is hydrops fetalis?

A

rhesus (Rh) blood group isoummunization of the fetus

122
Q

what are the hydrops fetalis symptoms?

A
  • placental thickening
  • abdnormal fluid in the abdominal cavity, heart, and lungs
  • general edema
  • excess amniotic fluid
123
Q

what does fetal hydrops refer to?

A

pathological accumulation of fluid in 2 or more body cavities of tissue

124
Q

what is associated with fetal hemolytic disease?

A
  • anemia
  • extramedullary erythopoiesis
  • hepatosplenomegaly
  • hypoalbuminemia
  • congestive heart failure
125
Q

how is immune hydrops prevented?

A

300mg of RhoGam is given at 28 weeks gestation in sensitized individuals or within 48h invasive fetal procedure

126
Q

what are the causes and associations with maternal non-immune hydrops?

A
  • uncontrolled diabetis
  • severe anemia
  • severe hypoproteinemia
  • indomethacin
  • prematire closure of ductus arteriosus
  • maternal syphilis
  • maternal hyperthyroidism
  • cytomegalovirus
  • parvovirus B19 (5th diseae)
127
Q

what are the causes and associations with placenta/cord non-immune hydrops?

A
  • large chorioangioma
  • umbilical artery aneurysm
  • cord torsion, knot, or tumor
128
Q

what is indomethacin (indocin)?

A

prescription drug used to treat moderate to severe pain, swelling, and stiffness from arthritis (not good during pregnancy)

129
Q

what can syphilis cause in pregnant women?

A

miscarriage, stillbirth, or the baby’s death shortly after birth

130
Q

babies born with congenital syphillis can have what?

A
  • bone damage
  • severe anemia
  • enlarged liver and spleen
  • jaundice
  • nerve problems causing blindness or deafness
  • meningitis,
  • skin rashes
131
Q

what condtion is characterized by decreased fetal movement?

A

fetal akinesia deformation sequence (FADS)

132
Q

what may FADS be caused by?

A

mutations in the RAPS or DOK7 genes

133
Q

what is gestational age determined by?

A
  • LMP
  • Mean gestational sac
  • crown rump length
  • BPD, HC, AC, FL
134
Q

SGA babies usually have birth weights below ________

A

10th percentile

135
Q

how may babies with SGA appear?

A

proportionally small or they may b of normal length and size but have lower weight and body mass

136
Q

how is intrauterine growth restriction (IUGR) defined?

A

fetus that is underachievieng its growth potential becuase the fetus does not recieve the necessary nutrients and oxygen needed for proper growth and developement

137
Q

what is early-onset IUGR often due to?

A
  • chromosomal abnormalities
  • maternal disease
  • severe problems with the placenta
138
Q

what is late-onset IUGR related to?

A

after 32 weeks is usually related to other problems

139
Q

what are the maternal factors for SGA?

A
  • High blood pressure
  • Chronic kidney disease
  • Advanced diabetes
  • Heart or respiratory disease
  • Malnutrition, anemia
  • Infection
  • Substance use (alcohol, drugs)
  • Cigarette smoking
140
Q

what are the factors involving the uterus and placenta for SGA?

A
  • Decreased blood flow in the uterus and placenta
  • Placental abruption (placenta detaches from the uterus)
  • Placenta previa (placenta attaches low in the uterus)
  • Infection in the tissues around the fetus
141
Q

what are factors for SGA related to the devloping fetus?

A
  • multiple gestation
  • infection
  • birth defects
  • chromosomal abnormality
142
Q

why is SGA/IUGR a concern?

A

When the fetus does not receive enough oxygen or nutrients during pregnancy, overall body and organ growth is limited, and tissue and organ cells may not grow as large or as numerous.

143
Q

what may babies with SGA or IUGR have problems with at birth?

A
  • decreased oxygen levels
  • low Apgar scores
  • meconium aspiration
  • hypoglycemia
  • difficulty maintaing normal body temperature
  • polycythemia
144
Q

when is IUGR considered?

A

when baby is lower tha 10th percentile of the gestatonal age curve

145
Q

what causes IUGR?

A

placental insufficiency, either primary or secondary to a maternal etiology

146
Q

symmetric SGA

A

ALL measurements (HC, length weight) are reduced

147
Q

Asymmetric SGA

A

only have a weight reduction

148
Q

what is symmetric SGA’s usually caused by?

A

due to causes that occur at early stages of pregnancy

149
Q

what is asymmetric SGA’s caused by?

A

insults that appear in the 3rd trimester

150
Q

symmetric IUGR has ___________ reduction in all fetal parameters

A

proportional

151
Q

what is symmetruc IUGR associated with?

A

chromosome anomalies (most common)or infection (2nd most common)

152
Q

what is the sonographic diagnosis of symmetric IUGR?

A

-Early onset should be considered in the 1st trimester if there is a CRL - good menstrual dates discrepancy greater than one week.

153
Q

what does asymmetric IUGR result from?

A

placental insuffciency

154
Q

what does asymmetric IUGR result from?

A

preferntial blood flow to the fetal brain

155
Q

what is elevated in fetuses with asymmetric IUGR?

A

FL/AC ratio

HC/AC ratio

156
Q

what are non-specific findings of IUGR?

A
  • oligohydramnois
  • placental senescence
  • Grade 3 (calcification)
  • delayed sonographic appearance of the distal femoral ossification center
157
Q

when is macrosomia or larger for GA fetus mean?

A

weight above the 90th percentile

fetal weight > 4000g

158
Q

what is the most common risk factor for macrosomia?

A

maternal diabetes

159
Q

what do the ratios means for macrosomia?

A

FL/AC and HC/AC ratios are low

160
Q

what is the normal chromosomal number?

161
Q

what is aneuploidy?

A

any deviation from the diploid number of 46 chromosomes

162
Q

what are the most common aneuploidies?

A
  • Trisomy 21 (Down’s Syndrome)
  • Trisomy 18 (Edward’s Syndrome)
  • Trisomy 13 (Patau’s Syndrome)
  • Turner’s Syndrome (45, XO)
163
Q

what is the highest risk for chromosomal abnormalities?

A
  • advanced maternal age

- previously affected child

164
Q

what lab results show risk of aneuploidy?

A

low maternal serum alpha-fetaprotein and abnormal maternal serum triple-screen-patterns

165
Q

what is the most common chromosomal abnormality?

A

trisomy 21

166
Q

what is shown is trisomy 21?

A
  • mild ventriculomegaly (10-12mm)

- nuchal thickening

167
Q

what is needed to be seen in the nuchal thickening scan?

A

oblique plane showing CSP anteriorly and cisterna magna posteriorly (6mm or greater at 15-20 weeks=abnormal)

168
Q

what is the most common cardiac anomaly associated with trisomy 21?

A

atrioventricular canal defect (endocardial cushion defect)

-Echogenic intracardia foci as an isolated finding

169
Q

what is shown in trisomy 21?

A
  • cardiac anomaly
  • duodenal atresia
  • echogenic bowel
  • mild pyelectasis
  • widened iliac angle (60-75 degrees)
  • shortening of the femur and humerus
  • clinodactyly of the 5th digit
  • sandal gap toes
170
Q

what is shown in trisomy 18?

A
  • IUGR
  • Strawberry shaped head
  • choriod plexus
  • enlarged cisterna magna
  • cardiac anomalies
  • congenital diaphragmatic hernia
  • omphalocele
  • perisstent clenched hand with overlapping digits
  • club foot
  • rocker bottom feet
171
Q

what is shown in trisomy 13?

A
  • IUGR
  • microcephaly
  • holoprosencephaly
  • facial defects
  • cardiac anomalies (ventricular deptal defect)
  • genitourinary anomalies
  • polydactyly
172
Q

what facial defects are associated with trisomy 13?

A
  • cleft lip
  • ocular abnormalities (hypotelorism)
  • nose abnormalities (absence of nose)
173
Q

what is the most common genitourinary anomalies?

A

cystic renal dysplasia

174
Q

who is turners syndrome only affected in?

A

females (one of the X chromosomes missing)

175
Q

unlike trisomies, what is turners syndrome not associated with?

A

not associated with maternal age

176
Q

what is shown in turners syndrome?

A
  • fetal hydrops
  • cystic hygroma
  • cardaic anomalies (coarctation)
177
Q

which condition affects many areas of the body?

A

noonan syndrome

178
Q

what is noonan syndrome characterized by?

A
  • mildly unusual facial characteristics
  • short stature
  • heart defects
  • bleeding problems
  • skeletal malformations
179
Q

in noonan syndrome about _______ have short stature

180
Q

what is the mostc common heart defect in noonan syndrome?

A

pulmoanry valve stenosis

181
Q

what is noonan syndrome caused by?

A

genetic mutation

182
Q

how does triploidy result?

A

from an extra haploid set of chromosomes at fertilization with the extra set of chromosomes usuing being paternal (ovum fertilized by 2 sperm)

183
Q

what anomanies occur with triploidy?

A
  • brain=alobar holoprosencephaly
  • hands and feet=polydactlyly
  • short femur=(60%)
  • molar pregnancy=(prior 20 weeks gestation)
184
Q

what is associated with the pentatolgy of cantrell?

A
  • ectopia cordis
  • heart defect
  • diaphragmatic hernia
  • pericardial defect
  • omphalocele
185
Q

what syndrome is classified as an overgrowth syndrome?

A

beckwith-weidemann syndrome

186
Q

what is the usual growth pattern known as in beckwith-wiedemann syndrome?

A

hemihyperplasia

187
Q

what are common signs and symptoms of beckwith-wiedemann syndrome?

A
  • macrosomia
  • macroglossia
  • omphacele
  • renal neoplasm
188
Q

what are people with beckwith-wiedemann syndrome at increased risk of developing?

A
  • wilms tumor

- hepatoblastoma

189
Q

what are the common fetures of meckel-gruber syndrome?

A
  • enlarged kidneys with fluid filled cysts
  • an occipital encephalocele (sac like protrusion of brain through opening in skull)
  • presence of extra fingers and toes (polydactyly)
  • scar tissue (fibrosis) in the liver
190
Q

how do most individuals with meckel-gruber syndrome die from?

A

respiratory problems or kidney failure

191
Q

what is walker warburg syndrome?

A

in inherited disorder that affects development of the muscles, brain, and eyes

192
Q

what is the most severe of a group of genetic conditions known as?

A

congenital muscular dystrophies

193
Q

how does walker warburg syndrome affect the brain?

A

cobblestone lissencephaly

194
Q

how is smith lemli opitz syndrome characterized?

A
  • distinctive facial features
  • microcephaly
  • intellectual disability or learning problems
  • behavioral problems
195
Q

what is fetal alcohol syndrome?

A

a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy

196
Q

how does fetal alcohol syndrome affect baby?

A

alcohol crosses the placental barrier and can shunt fetal growth or weight, create distinctive facial stigmata, damage neurons and brain structures

Abnormal OB (7 decks)

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