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Pediatrics > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

triple marker

A

AFP, unconjugated estriol, B-HCG

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2
Q

low AFP, low unconjugated estriol, high b-HCG

A

Down syndome

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3
Q

low AFP, low unconjugated estriol, low B-HCG

A

trisomy 18

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4
Q

chorionic villus sampling timing

A

10-13 weeks

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5
Q

amniocentesis timing

A

16-18 weeks

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6
Q

Marfan syndrome clinical features

A

AD chrome 15 fibrillin
connective tissue disorder that affects primarily
ocular: upward lens subluxation and retinal detachment
cardiovascular: aortic root dilatation, MVP, AR
skeletal systems: tall stature with elongated extremities and long fingers, dec. U/L

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7
Q

diagnosis of marfan syndrome

A

clinical findings (homocystinuria has many of the same clinical features so screening tests to rule out homocystinuria)

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8
Q

complications of marfan syndrome

A

endocarditis, retinal detachment, sudden death from aortic dissection (HTN inc. dissection risk)

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9
Q

prader-willi syndrome mechanism

A

genomic imprinting (absence of paternally derived chrome 15)

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10
Q

prader-willi clinical features

A

Craniofacial: almond-shaped eyes and fishlike mouth
Growth: FTT in 1st year, then obesity as a result of polyphagia later in life; short stature with small hands and feet
Neurologic features: hypotonia, MR, learning issues
Hypogonadism

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11
Q

prader-willi diagnosis

A

FISH

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12
Q

prader-willi complications

A

infancy: hypotonia may lead to poor sucking, feeding problems, developmental delay
childhood: obesity–> OSA
adulthood: obesity–> cardiac disease, T2DM

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13
Q

Angelman syndrome mechanism

A

genomic imprinting (deletion of maternally derived chrome 15)

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14
Q

angelman clinical features

A

neurologic: jerky arm movements, ataxia, inappropriate laughter, severe MR with speech delay
craniofacial: small wide head, large mouth, blond hair and pale blue deep-set eyes

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15
Q

angelman diagnosis

A

fish

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16
Q

noonan syndrome mechanism

A

male version of Turners but females can be affected

sporadic or maybe AD (chrome 12)

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17
Q

noonan syndrome clinical features

A

short stature, shield chest
short webbed neck and low hairline
cardiac: right-sided heart lesions (PV stenosis)–Turner have left sided heart lesions

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18
Q

Digeorge syndrome

A

deletion at chrom 22q11 (CATCH-22): cardiac anomaly, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia); sporadic and AD

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19
Q

clinical features of digeorge

A

craniofacial: short palpebral fissures, small chin, ear anomalies
cardiac: aortic arch anomalies, VSD, tetralogy of fallot
THYMUS AND PARATHYROID HYPOPLASIA–> CELL-MEDIATED IMMUNODEFICIENCY AND SEVERE HYPOCALCEMIA

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20
Q

complications from digeorge

A

infections as a result of cell-mediated immunodeficiency and seizures caused by hypocalcemia

21
Q

ehlers-danlos syndrome

A

defective type V collagen; AD

22
Q

ehlers-danlos syndrome clinical features

A

MSK: hyperextensible joints with a tendency towards dislocation and scoliosis
Derm: soft, velvet, loose fragile skin; tissue paper-thin scars
CV: MVP, aortic rood dilation and fragile blood vessels
GI: constipation, rectal prolapse, and hernias

23
Q

osteogenesis imperfecta

A 
abnormal type I collagen
blue sclerae
fragile bones--frequent fractures, knock-knees, scoliosis or kyphosis, osteoporosis
yellow or gray-blue teeth
easy bursibility
24
Q

complications of osteogenesis imperfecta

A

early conductive hearing loss and skeletal deformities as a result of fractures

25
Q

VACTERL (VATER) association

A 
V-vertebral defects
A- anal atresia
C: cardiac anomalies (VSD)
TE: tracheoesophageal fistula
R: renal and genital defects
L: limb defects (inc. radial hypoplasia, syndactyly and polydactyly)
26
Q

CHARGE association

A

C: colobomas (absence or defect of ocular tissue), usually of the retina
H: heart defects, TOF
A: atresia of the nasal choanae
R: retardation of growth and cognition
G: genital anomalies (inc. genital hypoplasia)
E: ear anomalies (cup-shaped ears and hearing loss)

27
Q

Williams syndrome

A

AD; deletion of chrom 7

28
Q

williams syndrome features

A

“elfin facies” with short palpebral issues, flat nasal bridge, and round cheeks
“cocktail party” personality–MR and loquacious personality
supravalvular aortic stenosis
idiopathic hypercalcemia in infancy
connective tissue abnormalities inc. a hoarse voice and hernias

29
Q

Cornelia de lange (brachmann-de Lange)

A

inheritance is mostly sporadic, but AD may occur

30
Q

cornelia de lange syndrome fatures

A

single eyebrow and very short stature without skeletal abnormalities
–small for gestational age and FTT
craniofacial: single eyebrow (synophrys), microcephaly, tin, downtrend upper lip
infantile hypertonia
MR

31
Q

Russet-Silver syndrome

A

short statures and skeletal asymmetry with normal head circumference; small triangular face; cafe-au lait spots on skin
excessive sweating

32
Q

Pierre Robin syndrome

A

micrognathia, cleft lip and palate, large protruding tongue

feeding is difficult because of the cleft palate

33
Q

complications of pierre robin syndrome

A

recurrent ositis media and upper airway obstruction that often requires tracheostomy

34
Q

cri du chat syndrome

A

partial deletion of the short arm of chromosome 5 (sporadic)

35
Q

clinical features of crib du chat syndrome

A

catlike cry, slow growth, microcephaly, MR, hypertelorism (wide-set eyes), down slanting palpebral fissures

36
Q

Downs

A

Trisomy 21- with risk increasing with maternal age

37
Q

clinical features of down

A

craniofacial: epicanthal skin folds, burshfield spots (speckled irides)
hypotonia
MR
MSK: clinodactyly, single palmar creases, wide space between first and second toes
GI: duodenal atresia, Hirschsprung’s disease and omphalocele, pyloric stenosis
Cardiac( 40%): endocardial cushion defect

38
Q

complications of down syndrome

A 
atlantoaxial cervical spin instability
leukemia
celiac
early alzheimers
OSA
conductive hearing loss
hypothyroid
cataracts, glaucoma, and refractive errors
39
Q

trisomy 18

A

second most common trisomy; more common in females (3x)

40
Q

clinical features of trisomy 18

A

mental retardation; hypertonia with scissoring of the lower extremities; delicate, small facial features
MSK: clenched hands with overlapping digits and rocker bottom feet

41
Q

trisomy 13

A

with midline defects
Neuro: holoprosencephaly-forebrain doesn’t separate, microcephaly, seiaures, and seizures, severe MR
Ocular: microphthalmia, retinal dysplasia, colobomas, and rarely a single eye
Cleft lip and palate

42
Q

Turner syndrome

A

only one X is present
short stature, webbed neck
shield chest with broadly shaped nipples and scoliosis or kyphosis
swelling of the dorm of hands and feet
ovarian dysgenesis causes delayed puberty
CARDIAC: left-sided heart lesions, esp. coarctation of the aorta
hypothyroidism

43
Q

fragile X

A

X-linked disorder; CGG repeats
more sever in males
most common inherited cause of mental retardation

44
Q

fragile x clinical syndrome

A

mild-severe mental retardation
large eyes, macrocephaly, thickened nasal bridge
large testes
behavioral: emotional instability, autistic features, and ADHD

45
Q

trisomy 18 name

A

Edwards

46
Q

trisomy 13 name

A

patau’s syndrome

47
Q

klinefelter

A

most common cause of male hypogonadism and infertility

47 XXY

48
Q

clinical features of klinefelters

A 
tall stature with long extremities
hypogonadism, delayed pubery
gynecomastia
variable intelligence
behavioral findins--antisocial and excessive shyness or agression

Pediatrics (2 decks)

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