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genetic disorders Flashcards

1
Q

marfan syndrome - Genetic inheritance

A

AD

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2
Q

marfan and key findings

A

ocular, cardiovascular, and skeletal system -

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3
Q

marfan chromosome

A

15

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4
Q

marfan and protein

A

fibrillin- provides structure for connective tissues

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5
Q

arachnodactyly- disease

A

marfan

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6
Q

marfan and segment ratios of body

A

decresed Upper to lower ratios

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7
Q

marfan ocular finding

A

upward lens sybluxation

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8
Q

CV and marfan

A

aortic root dilatation and mitral valve prolapse and aortic regurgitation

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9
Q

marfan and DDX

A

homocystinuria

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10
Q

marfan complications:

A 
retinal detachment
endocarditis
sudden death
hypertension and tchest trauma - increase dissection risk 
endocarditis prophylaxis
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11
Q

prader willi - inheritance

A

deletion of chromosome 15- parental

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12
Q

prader willi findings

A 
fishmouth, almond-shaped eyes 
ftt
followed by obesity as a result of hyperphagia 
short stature with small hands and feet
hypotonia, MR, hypogonadism
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13
Q

diagnosis of prader willi

A

FISH

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14
Q

prader willi complications

A

infancy - hypotonia
childhood - obstructive sleep apnea
adulthood - cardiac disease and type 2 diabetes mellitus

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15
Q

angelman syndrome - inheritance

A

chromosome 15 maternal

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16
Q

angelman - findings

A 
large mouth
wide spaced teeth 
tongue protrusion
progranthia
blond hair and blue eyes
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17
Q

diagnosis of angelman

A

FISH

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18
Q

noonan syndrome - nheritance

A

male version of turner and females can be affecte -

AD - chromosome 12

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19
Q

noonan syndrome - clinical

A

short stature,
shield chest
short webbed neck and low hairline, hypertelorism
epicanthal skin folds

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20
Q

noonan - defect

A

right sided heart lesion
pulmonary valve stenosis
MR

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21
Q

digeorges inheritance

A

deletion on ch. 22q11- sporadic and AD

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22
Q

digeorge and symptoms

A 
C- cardiac
A- abrnormal facies
T- tHYMIC HYPOPLASIA
C- CLEFT PALATE 
H- HYPOCALCEMIA
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23
Q

cardiac and digeorge

A

aortic arch anomalies and VSD and tetralogy of fallot

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24
Q

digeorge and immune

A

thymus and parathyroid hypoplasia causes cell-mediated immunodeficiency and severe hypocalcemia

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25
Q

complication of digeorge

A

infections and seizure

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26
Q

velocardiofacial syndrome - inheritance

A

deletion on 22q11

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27
Q

clinical features of velocardiofacial syndrome

A

cleft palate, wide prominent nose, squared nasal root, short chin, fish-shaped mouth

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28
Q

velocardiofacial neuro

A

hypotonia and learning issues

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29
Q

ehlers -danlos inheritance

A

defective type V collagen - AD

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30
Q

ehlers danlos findings

A

hyperextensible joints
fragile skin
tissue paper thin scars
MV prolapse/ aortic root dilation and fragile blood vessels that resultin ease of bruising
GI - constipation, rectal prolapse and hernia

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31
Q

Osteogenesis imperfecta

A

abnormal type I collagen -

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32
Q

osteogenesis imperfecta type 1 - clinical

A 
blue sclearae 
fragile bones 
genu valgum 
scoliosis
joint laxity 
yellow-or gray blue teeth
easy bruisability
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33
Q

complications from OS type 1

A

early conductive hearing loss and skeletal deformities

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34
Q

VACTERL- VATER- association

A 
V- vertebral defects
A- anal atresia
C- cardiac anomalies
TE - tracheoesophageal fistula
R- renal
L - limb defects
35
Q

CHARGE

A 
C- Colobomas
H- heart defects
A- atresia of the nasal choanae
R- retardation
G- genital anomalies
E- ear anomalies
36
Q

williams syndrome - inheritance

A

deletion on ch. 7 - AD

37
Q

william syndrome personality

A

cocktail party personality

38
Q

william syndrome clinical feature

A 
elfin facies
mental retardation and loquacious personality
supravalvular aortic stenosis
idiopathic hypercalcemia
connective tissue abnormalities
39
Q

cornelia de lange

A

single eyebrow and short stature without skeletal abnormalities - inheritance is sporadic and AD

40
Q

cornelia de lange clinical

A 
SGA and FTT
single eyebrow - microcephaly 
infantile hypertonia 
MR
small hands and feet
behavioral- lack of facial expression and self destructive tendency
41
Q

russel silver

A

short, skeletal asymmetry and normal head circumference

42
Q

russell silver clinical

A 
SGA
small triangular face 
short stature and limb asymmetry 
cafe-au-lait sports 
excessive sweating
43
Q

pierre robin syndrome

A

microganthia, cleft lip, palate,

44
Q

complication of pierre robin syndrome

A

recurrentotitis media and Upper airway obstruction

45
Q

criduchat syndrome inheritance/genetic

A

partial deletion of short ch. 5

46
Q

criduchat clinical

A

microcephaly, MR, hypertelorism, downslanting palpebral fissures, catlike cry

47
Q

gi complications of downs

A

duodenal obstruction and hirshsprungs disease
omphalocele
pyloric stenosis

48
Q

cardiac and downs

A

endocardial cushion defects

49
Q

complications in downs

A 
atlantoaxial cervical spine instability
leukemia
celiac disease
early alz. 
obstructive sleep apnea
conductive hearing loss
hypothyroid
cataracts/glaucoma
50
Q

trisomy 18 - general facts

A

females

second most common trisomy

51
Q

trisomy 18 clinical

A

MR, hypertonia, scissoring of the lower extremities
delicate small facial features
clenched hands - overlapping digits
rocker bottom feet

52
Q

prognosis for trisomy 18

A

95% will die within the first year of life

53
Q

trisomy 13 - info

A

midline defects - face and forebrain

54
Q

trisomy 13 clinical

A

holoprosencephaly, severe MR
microphthalmia
retinal dysplasa
cleft lip and palate

55
Q

prognosis of trisomy 13

A

death within the first month of life

56
Q

turner syndrome- clinical

A

short
webbed neck
shieldchest
swelling of the dorsum of the hands and feet
ovarian dysgenesis
left sided heart lesions - coarcation of the aorta
hypothyroid

57
Q

fragile x- inheritance

A

CGG repeats
x-linked
anticipation

58
Q

fragile x - clinical

A

mild -mod retardation
macrocephaly
thickened nasal bridge
large testes

59
Q

kleinfelter syndrome

A

male hypogonadism and infertility

60
Q

kleinfelter clinical

A 
tall with long extremities
hypogonadism
delayed puberty
gynecomastia 
variable intelligence
61
Q

rhizomelia

A

long bone abnormality

62
Q

mesomelia

A

medial long bone abnormalities- ulna and tibia

63
Q

acromelia

A

distal abnormalities

64
Q

spondylodysplasias

A

spine abnormalities with or without limb abnormalities

65
Q

achondroplasia- info

A

most common skeletal dysplasia - rhizomelia -
AD
sporadic
fibroblast growth factor receptor 3

66
Q

achondroplasia clinical

A

craniofacial - megalencephaly, foramen magnum stenosis,
lumbar kyphosis
lumbar lordosis
rhizomelic limb shortening
trident-shaped hands
recurrent otitis media with conductive hearing loss

67
Q

achondroplasia - complications

A 
foramen magnum stenosis 
hydrocephalus or cord compression
sudden infant death
Obstruct sleep apnea
orthopedic problems
68
Q

potter syndrome - clinical info

A

severe oligohydraminos -
lung hypoplasia
fetal compression with limb abnormalities
chronic amniotic fluid leak or intrauterine renal failure

69
Q

amniotic band syndrome - clinic

A

rupture of the amniotic sac
fluid leak leads to intrauterine constraints and small strands from the amnion may wrap around the fetus causing limb scarring and amputation

70
Q

fetal alcohol syndrome-

A

SGA; FTT
microcephaly
long smooth philtrum with a thin smooth upper lip

71
Q

acute severe neonatal illness

A
  • well until acute illness in first few hours/weeks of life
72
Q

management for inborn errors of metabolism

A

provide energy and IV glucose
prevent exposure to the offending substance
correct acidosis or hyperammonemia

73
Q

homocystinuria

A

AR

74
Q

homcystinuria - clinical

A

marfanoid look
downward lens subluzation
scoliosis
developmental delay

75
Q

diagnosis of homocystinuria

A

increased methionine

76
Q

management of homocystinuria

A

methionine-restricted diet

asprin

77
Q

tyrosinemia of newborn -

A

premature infants that receive high protein diets

78
Q

tyrosinemia - clinical

A

2wks and poor feed or lethargy

79
Q

diagnosis of tyrosinemia

A

elevated tyrosine and phenylalanine

80
Q

treatment of tyrosinemia

A

vit. C and decrease protein intake

81
Q

cystinuria

A

AR - defect in renal reabsorption of cystine, lysine, arginine, and ornithine
leads to renal stones

82
Q

hartnup disease

A

AR - defect in the transport of neutral amino acids; some have intermittent ataxia; photosensitivity; MR and emotional lability

83
Q

transient hyperammonium in newborns

A

self-limited -

resp. distress, alkalosis, vomiting, and lethargy

84
Q

ornithine transcarbamylase deficiency

A

most common urea cycle defect

X linked

Pediatrics (10 decks)

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