chap 10 sy/sg Flashcards

1
Q

Increased risk of Ecoli septicemia

A

galactosemia

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2
Q

triphasic combination:

A

Wilms tumor
• Blastemal – small blue cells in sheets with few distinctive features.
• Stromal- usually fibrotic or myxoid in nature.
• Epithelial- abortive tubules or glomeruli.

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3
Q

intestinal perforation

A

NEC

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4
Q

Lg, bad smell stool

A

CF

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5
Q

ulceration of colon

A

NEC

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6
Q

Wilms tumor (33% of developing wilms), aniridia, genital anomalies, and mental retardation.

A

WAGR synd

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7
Q

bloody stools

A

NEC

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8
Q

vitA deficeincy

A

CF

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9
Q

abd mass

A

neuroblastoma

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10
Q

hyperplasia of bone marrow

A

fetal anemia

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11
Q

flattened facies

A

potter seq

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12
Q

seizures

A

PKU

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13
Q

gliosis

A

galactosemia

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14
Q

learning disability

A

SGA

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15
Q

pale fetus and placenta

A

fetal anemia

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16
Q

amnion nodosum

A

potter seq

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17
Q

cataracts

A

galactosemia

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18
Q

respiratory symptoms,

A

neuroblastoma in older pt

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19
Q

eczema

A

PKU

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20
Q

cardiac injury leading to cardiac decompensation and failure

A

immune hydrops (w liver injury, leads to generalized edema, anasarca (extreme generalized edema), and ultimately in hydrops fetalis. )

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21
Q

Kernicterus

A

fetal anemia: Brain is enlarged, edematous, and yellow

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22
Q

attention difficulty

A

fetal alch synd

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23
Q

poor coord

A

fetal alch synd

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24
Q

Wilms tumor (90%), gonadal dysgenesis (male pseusohermaphroditism), and early-onset nephropathy leading to renal failure.

A

Denys-Drash syndrome

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25
Q

o Vomiting and diarrhea within a few days of milk ingestion

A

galactosemia

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26
Q

hepatic steatosis –> cirrhosis –> nodularity

A

CF

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27
Q

increased cahtecholamines

A

neuroblastoma

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28
Q

erythroblastosis fetalis

A

fetal anemia: increased numbers of immature RBCs including reticulocytes, normoblasts, and erythroblasts. (pic)

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29
Q

abd pain

A

CF

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30
Q

bowel obstruction

A

Wilms tumor

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31
Q

abd distension

A

NEC

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32
Q

pulmonary metastasis.

A

Wilms tumor

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33
Q

gonadoblastomas

A

Denys-Drash syndrome

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34
Q

Aminoaciduria

A

galactosemia

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35
Q

edema, esp in the dentate nuclei of the cerebellum and the olivary nuclei of the medulla.

A

galactosemia

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36
Q

lungs congested with microscopic vascular engorgement and pulmonary edema.

A

SIDS

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37
Q

loss of n cells

A

galactosemia

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38
Q

micro: bac colonization

A

NEC

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39
Q

intestinal obstruction

A

CF

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40
Q

minute rests

A

in situ neuroblastomas: leave behind fibrosis and calcification

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41
Q

deep blu coloration of skin

A

neuroblastoma: blueberry muffin baby

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42
Q

neutropil appearance of cell

A

neuroblastoma: eosinophilic fibrillary material that corresp w neuritic processes of the primitive neuroblasts.

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43
Q

Beta catenin gain of function (WNT signaling pathway).

A

Beckwith-Wiedemann syndrome

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44
Q

B strep causes

A

early sepsis

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45
Q

Normal at birth, but impair brain development and mental retardation within 6 months.

A

PKU

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46
Q

decreased pigmentation of skin/hair

A

PKU: from decreased tyr

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47
Q

mental retardation in 6-12 mos

A

galactosemia

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48
Q

anemia

A

immune hydrops

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49
Q

Infants fail to thrive from birth.

A

galactosemia

50
Q

lungs solid and reddish-purp

A

RDS (hyaline mem dis)

51
Q

hepatosplenomegaly

A

fetal anemia

-hepatomegaly in galactosemia and CF

52
Q

fatty change of liker

A

early galactosemia

53
Q

male infertility

A

CF: bilateral absence of the vas deferens

54
Q

hypertension

A

Wilms tumor

55
Q

pnemumatosis intestinalis

A

NEC: gas in intestine

56
Q

Poor wt gain

A

CF

57
Q

bone pain

A

neuroblastoma in older pt

58
Q

rales heard

A

RDS (hyaline mem dis)

59
Q

large abdominal mass that may extend across midline or into pelvis

A

Wilms tumor

60
Q

wt loss

A

neuroblastoma

61
Q

hemolysis and coag

A

galactosemia

62
Q

fever

A

neuroblastoma

63
Q

dislocated hips

A

potter seq

64
Q

Proptosis (exophthalmos)

A

neuroblastoma if metastasizing to the periorbital region

65
Q

pancreatic insufficiency

A

CF

66
Q

extramedullary hematopoesis in liver, spleen, LNs

A

fetal anemia

67
Q

fibrosis/granulation tissue of colon

A

NEC

68
Q

fetal macrosomia

A

DM mom…organomegaly and increased body fat and m mass

69
Q

gonadal failure

A

older pt w galactosemia

70
Q

scarring of liver similar to alch

A

later galactosemia

71
Q

liver injury resulting in plasma proteins synth

A

immune hydrops (w cardiac injury, leads to generalized edema, anasarca (extreme generalized edema), and ultimately in hydrops fetalis. )

72
Q

GI complaints

A

neuroblastoma in older pt

73
Q

neural tube defects

A

DM mom

74
Q

multiple petechiae on the thymus, visceral and parietal pleura, and epicardium.

A

SIDS

75
Q

viral inclusions in erythroid progenitors

A

parvovirus B19

76
Q

speech probs

A

older pt w galactosemia

77
Q

cystic and cavernous spaces on neck, axilla, mediastinum, retroperitoneal tissue

A

lymphangioma

78
Q

increased mucus and defective mucociliary action

A

CF

79
Q

jaundice

A
  • (non)immune hydrops –> cross BBB = kernicterus
  • galactosemia
  • CF
80
Q

ground-glass appearance on x ray

A

RDS (hyaline mem dis)

81
Q

necrotic cells and fibrin deposition with a hyaline membrane in lungs

A

RDS (hyaline mem dis)

82
Q

Musty or mousy odor

A

PKU

83
Q

maxillary hypoplasia

A

fetal alch synd

84
Q

circulator collapse

A

NEC

85
Q

psychomotor disturbances

A

fetal alch synd

86
Q

increased risk of hepatoblastoma, pancreatoblastoma, adrenocortical tumors, and rhabdomyosarcomas.

A

Beckwith-Wiedemann syndrome : have CDKN1C (p57 or KIP2) mutation

87
Q

Hematuria

A

Wilms tumor

88
Q

obstruction of the airways

A

CF

89
Q

Organomegaly, wilms tumor (5%), macroglossia, hemihypertrophy, omphalocele, and abnormal large cells in the adrenal cortex (adrenal cytomegaly).

A

Beckwith-Wiedemann syndrome

90
Q

microcephaly

A

fetal alch synd

91
Q

Major handicaps

A

SGA

92
Q

malnutrition

A

CF

93
Q

steatorrhea

A

CF

94
Q

cerebral dysfunction

A

SGA

95
Q

ataxia

A

older pt w galactosemia

96
Q

accumulations of mucus in the small ducts and dilation of the exocrine glands.

A

mild CF

97
Q

listeria and canadida cause

A

late sepsis

98
Q

hyperactive behavior

A

fetal alch synd

99
Q

cyanotic

A

RDS (hyaline mem dis)

100
Q

be unable to walk/talk

A

PKU

101
Q

pseudorosettes

A

neuroblastoma: tumor cells are concentrically arranged about a central space filled with neuropil.

102
Q

pre and post natal grth retard (ht and wt)

A

fetal alch synd

103
Q

short palpebral fissures

A

fetal alch synd

104
Q

hearing/visual impairment

A

SGA

105
Q

micro: coag necrosis

A

NEC

106
Q

positional abnormalities of the hands and feet

A

potter seq

107
Q

ducts are completely plugged, causing atrophy of the glands and progressive fibrosis.

A

severe CF

108
Q

RDS (hyaline mem dis) can cause…

A

Patent ductus arteriosus, intraventricular hemorrhage, and necrotizing enterocolitis.

109
Q

CNS malformations

A

DM mom

110
Q

peritonitis

A

NEC

111
Q

ecchymosis in orbital region

A

neuroblastoma if metastasizing to the periorbital region

112
Q

diffuse swelling of part or all of the extremity that can cause considerable distortion and deformation

A

lymphangiectasis

113
Q

Meconium ileus

A

CF: thick viscid plugs of mucus in the intestine of infants → bowel obstruction

114
Q

red-blue on skin (face and scalp)

A

hemangioma

115
Q

bronchioles underbo hyperplasia and hypertrophy

A

CF

116
Q

<3 anomalies

A

DM mom

117
Q

Chronic lung dz from recurring infections

A

CF: usu from staph a., Haemophilus influenza, and pseudomonas aeruginosa

118
Q

nephrogenic rests

A

precursor lesion to wilms tumor

119
Q

Abd distention

A

CF

120
Q

hypoplastic lungs.

A

potter seq

121
Q

smooth philthrum

A

fetal alch synd