chap 10 sy/sg Flashcards
(121 cards)
1
Q
Increased risk of Ecoli septicemia
A
galactosemia
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.
3
Q
intestinal perforation
A
NEC
4
Q
Lg, bad smell stool
A
CF
5
Q
ulceration of colon
A
NEC
6
Q
Wilms tumor (33% of developing wilms), aniridia, genital anomalies, and mental retardation.
A
WAGR synd
7
Q
bloody stools
A
NEC
8
Q
vitA deficeincy
A
CF
9
Q
abd mass
A
neuroblastoma
10
Q
hyperplasia of bone marrow
A
fetal anemia
11
Q
flattened facies
A
potter seq
12
Q
seizures
A
PKU
13
Q
gliosis
A
galactosemia
14
Q
learning disability
A
SGA
15
Q
pale fetus and placenta
A
fetal anemia
16
Q
amnion nodosum
A
potter seq
17
Q
cataracts
A
galactosemia
18
Q
respiratory symptoms,
A
neuroblastoma in older pt
19
Q
eczema
A
PKU
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. )
21
Q
Kernicterus
A
fetal anemia: Brain is enlarged, edematous, and yellow
22
Q
attention difficulty
A
fetal alch synd
23
Q
poor coord
A
fetal alch synd
24
Q
Wilms tumor (90%), gonadal dysgenesis (male pseusohermaphroditism), and early-onset nephropathy leading to renal failure.
A
Denys-Drash syndrome
25
o Vomiting and diarrhea within a few days of milk ingestion
galactosemia
26
hepatic steatosis --> cirrhosis --> nodularity
CF
27
increased cahtecholamines
neuroblastoma
28
erythroblastosis fetalis
fetal anemia: increased numbers of immature RBCs including reticulocytes, normoblasts, and erythroblasts. (pic)
29
abd pain
CF
30
bowel obstruction
Wilms tumor
31
abd distension
NEC
32
pulmonary metastasis.
Wilms tumor
33
gonadoblastomas
Denys-Drash syndrome
34
Aminoaciduria
galactosemia
35
edema, esp in the dentate nuclei of the cerebellum and the olivary nuclei of the medulla.
galactosemia
36
lungs congested with microscopic vascular engorgement and pulmonary edema.
SIDS
37
loss of n cells
galactosemia
38
micro: bac colonization
NEC
39
intestinal obstruction
CF
40
minute rests
in situ neuroblastomas: leave behind fibrosis and calcification
41
deep blu coloration of skin
neuroblastoma: blueberry muffin baby
42
neutropil appearance of cell
neuroblastoma: eosinophilic fibrillary material that corresp w neuritic processes of the primitive neuroblasts.
43
Beta catenin gain of function (WNT signaling pathway).
Beckwith-Wiedemann syndrome
44
B strep causes
early sepsis
45
Normal at birth, but impair brain development and mental retardation within 6 months.
PKU
46
decreased pigmentation of skin/hair
PKU: from decreased tyr
47
mental retardation in 6-12 mos
galactosemia
48
anemia
immune hydrops
49
Infants fail to thrive from birth.
galactosemia
50
lungs solid and reddish-purp
RDS (hyaline mem dis)
51
hepatosplenomegaly
fetal anemia
| -hepatomegaly in galactosemia and CF
52
fatty change of liker
early galactosemia
53
male infertility
CF: bilateral absence of the vas deferens
54
hypertension
Wilms tumor
55
pnemumatosis intestinalis
NEC: gas in intestine
56
Poor wt gain
CF
57
bone pain
neuroblastoma in older pt
58
rales heard
RDS (hyaline mem dis)
59
large abdominal mass that may extend across midline or into pelvis
Wilms tumor
60
wt loss
neuroblastoma
61
hemolysis and coag
galactosemia
62
fever
neuroblastoma
63
dislocated hips
potter seq
64
Proptosis (exophthalmos)
neuroblastoma if metastasizing to the periorbital region
65
pancreatic insufficiency
CF
66
extramedullary hematopoesis in liver, spleen, LNs
fetal anemia
67
fibrosis/granulation tissue of colon
NEC
68
fetal macrosomia
DM mom...organomegaly and increased body fat and m mass
69
gonadal failure
older pt w galactosemia
70
scarring of liver similar to alch
later galactosemia
71
liver injury resulting in plasma proteins synth
immune hydrops (w cardiac injury, leads to generalized edema, anasarca (extreme generalized edema), and ultimately in hydrops fetalis. )
72
GI complaints
neuroblastoma in older pt
73
neural tube defects
DM mom
74
multiple petechiae on the thymus, visceral and parietal pleura, and epicardium.
SIDS
75
viral inclusions in erythroid progenitors
parvovirus B19
76
speech probs
older pt w galactosemia
77
cystic and cavernous spaces on neck, axilla, mediastinum, retroperitoneal tissue
lymphangioma
78
increased mucus and defective mucociliary action
CF
79
jaundice
- (non)immune hydrops --> cross BBB = kernicterus
- galactosemia
- CF
80
ground-glass appearance on x ray
RDS (hyaline mem dis)
81
necrotic cells and fibrin deposition with a hyaline membrane in lungs
RDS (hyaline mem dis)
82
Musty or mousy odor
PKU
83
maxillary hypoplasia
fetal alch synd
84
circulator collapse
NEC
85
psychomotor disturbances
fetal alch synd
86
increased risk of hepatoblastoma, pancreatoblastoma, adrenocortical tumors, and rhabdomyosarcomas.
Beckwith-Wiedemann syndrome : have CDKN1C (p57 or KIP2) mutation
87
Hematuria
Wilms tumor
88
obstruction of the airways
CF
89
Organomegaly, wilms tumor (5%), macroglossia, hemihypertrophy, omphalocele, and abnormal large cells in the adrenal cortex (adrenal cytomegaly).
Beckwith-Wiedemann syndrome
90
microcephaly
fetal alch synd
91
Major handicaps
SGA
92
malnutrition
CF
93
steatorrhea
CF
94
cerebral dysfunction
SGA
95
ataxia
older pt w galactosemia
96
accumulations of mucus in the small ducts and dilation of the exocrine glands.
mild CF
97
listeria and canadida cause
late sepsis
98
hyperactive behavior
fetal alch synd
99
cyanotic
RDS (hyaline mem dis)
100
be unable to walk/talk
PKU
101
pseudorosettes
neuroblastoma: tumor cells are concentrically arranged about a central space filled with neuropil.
102
pre and post natal grth retard (ht and wt)
fetal alch synd
103
short palpebral fissures
fetal alch synd
104
hearing/visual impairment
SGA
105
micro: coag necrosis
NEC
106
positional abnormalities of the hands and feet
potter seq
107
ducts are completely plugged, causing atrophy of the glands and progressive fibrosis.
severe CF
108
RDS (hyaline mem dis) can cause...
Patent ductus arteriosus, intraventricular hemorrhage, and necrotizing enterocolitis.
109
CNS malformations
DM mom
110
peritonitis
NEC
111
ecchymosis in orbital region
neuroblastoma if metastasizing to the periorbital region
112
diffuse swelling of part or all of the extremity that can cause considerable distortion and deformation
lymphangiectasis
113
Meconium ileus
CF: thick viscid plugs of mucus in the intestine of infants → bowel obstruction
114
red-blue on skin (face and scalp)
hemangioma
115
bronchioles underbo hyperplasia and hypertrophy
CF
116
<3 anomalies
DM mom
117
Chronic lung dz from recurring infections
CF: usu from staph a., Haemophilus influenza, and pseudomonas aeruginosa
118
nephrogenic rests
precursor lesion to wilms tumor
119
Abd distention
CF
120
hypoplastic lungs.
potter seq
121
smooth philthrum
fetal alch synd
