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Phase 2 PEDs > Congenital syndromes > Flashcards

Congenital syndromes Flashcards

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1
Q

Trisomy 21 is AKA?

A

Downs syndrome

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2
Q

RF of Tri-21?

A

Increased maternal age

Parental genetics

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3
Q

All children w/ down syndrome should have?

A

Chromosomal analysis

- if translocation present - test parents too

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4
Q

What age is Tri-21 much more susceptible?

A

35yo (1:200)

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5
Q

Phenotypic features of Tri-21?

A

Generalized hypotonia - Decreased Moro reflex
Small head
Single palmar crease
Wide - 1st toe space
Short stubby fingers (short mid-5th phalanx)

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6
Q

Single palmar crease is AKA?

A

Simian

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7
Q

Characteristic face of tri-21?

A 
Up slanting palpebral fissures
Epicanthal folds
Flat nasal bridge (hypoplasia)
Small irregular ears
Macroglossia
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8
Q

100% of all tri-21 will have what medical complication?

A

MR (33% of all MR)

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9
Q

Tri-21 medical complications

A 
Hearing loss
Eye defects
Polycythemia/Leukemia
- Cardiac defects
- GI defects
-Thyroid disease
-Skeletal instability
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10
Q

Tri-21 hearing loss will mostly - Sensorineural or Conductive?

A

Majority - sensorineural

Conductive will be dysplasia of ossicles or scarring due to RPT ear infections

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11
Q

Eye defects of trisomy 21?

A

Brushfield spots
Cataracts
Refractive errors
Strabismus (cross eyed)

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12
Q

Cardiac defects of tri-21?

A

ASD or VSD (L>R shunts) leads to >

- Pulm HTN or irreversible HF (Eisenmenger syndrome)

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13
Q

TXT for Tri-21 heart defects is?

A

Early surgical reversal for large defects

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14
Q

GI defects of tri-21?

A

Esophageal or duodenal atresia

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15
Q

Duodenal atresia XR will show?

A

Double bubble sign

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16
Q

Esophageal or duodenal atresia TXT is?

A

Immediate surgery

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17
Q

Skeletal defect of Tri-21?

A

Atlantoaxial instability

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18
Q

How often should hearing be eval for Tri-21?

A

Hearing screen Q/6mo until 3yo > Then annually

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19
Q

How often should eyes be eval for Tri-21?

A

1st exam before 6mo > then annually

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20
Q

When should C-spine XR be ordered for Tri-21?

A

By 3-5yo

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21
Q

Annual labs performed for Tri-21?

A

TSH, CBC, Celiac screen

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22
Q

Avg life span of tri-21?

A

60yrs (CHD will shorten)

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23
Q

MC drug induced congenital defect is?

A

Fetal alcohol syndrome

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24
Q

3 most common causes of MR?

A

1 - Downs syndrome (33%)

3- Fetal alcohol syndrome

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25
RFs of FAS?
Mom >30yo Hx binge drinkning Low socieconomic
26
FAS facial features? Common
MR and Growth retardation Short palpebral fissures (+- epicanthal folds) Indistinct or smooth philtrum Thin upper lip
27
FAS les common features?
Flat mid-face (short nose - upturned) Underdeveloped ear (railroad track) Ptosis Small head/jaw
28
Micrognathia is?
Small mandible
29
Extremity defect of FAS?
Clinodactyly | Hockey stick crease - palm
30
Clinodactyly is?
MC 5th finger rotated in comparison to plane of hand
31
Cardiac defects of FAS?
ASD, VSD
32
Developmental defects of FAS?
MR Fine motor delay ADHD
33
FAS prevention?
Mom - referral if >7drinks/wk or multiple >3 drinks/time
34
Fragile X features
Moderate-severe MR Developmental/neuro issues Physical attributes
35
Developmental/neuro issues of Fragile-x?
``` Hyperarousal Anxiety, mood labile Stereotypy - (hand flap) Epilepsy/seizures Autism ```
36
Physical attributes of Fragile-x?
Oblong face/large ears LRG testicles Connective tissue laxity Hypotonia
37
Dx of fragile x syndrome?
DNA amplification w/ direct analysis
38
TXT of fragile-x?
Genetic counseling Special ed Autism referral precaution Neuro for seizures
39
Turner syndrome - Chromo designation?
45XO - 50% lack X - 25% abnl x - 25% mosiac
40
Physical traits of 45XO?
Short stature webbed neck Shield chest (widely spaced nipples) Triangular face
41
Neonates w/ 45XO may present w/?
Extremity edema
42
45XO mental ability is?
NL; however, poor visual/spatial skills | Good verbal skills
43
45XO complications?
``` Coarctation of aorta Bicuspid aortic valve Early HTN Amenorrhea/infertility Lack 2ndy sex characteristics Endocrine d/o ```
44
Endocrine d/o's of 45XO?
Hpothyroidism DM type 1 Osteoporosis
45
Dx of 45XO?
Direct karyotyping
46
TXT of 45XO?
Cardiology referral - Echo/MRI/ECG | Endo referral - GH initiation(childhood)/Estg at 14yo
47
Labs monitored for 45XO?
TSH, CMP, UA annually
48
Klinefelter syndrome Chromo designation?
47XXY
49
47XXY phenotypically is abnl when?
Puberty - will notice
50
47XXY physical traits are a result of?
Testosterone deficiency
51
47XXY physical traits present as?
Small testes (hypogonadism) Infertility (semnifierous tubule fx lost) Gynecomastia 50% / Tall feminine build (wide hips) Decreased male hair pattern
52
47XXY mental capacity?
Low-normal IQ
53
Dx 47XXY by?
Direct karyotyping - if features seen Barr body can screen Hormone levels (LH, FSH, Testosterone)
54
47XXY hormonal lab results (high/low)?
Increased LH/FSH | Low testosterone
55
TXT of 47XXY?
Testosterone replacement | - infertility - harvest sperm
56
47XXY increases the risk of what condition considerably?
Breast cancer x16-30 of other men
57
Marfan syndrome is autosomal recessive or dominant?
Dominant
58
Marfan syndrome genetic mutation that is present?
Fibrillin 1 gene of chromo 15
59
Marfan syndrome features?
Dilation of aortic root > aortic dissection Long legs - arms span exceeds hgt Arachnodactyly (long fingers) (POS thumb or wrist sign) Scoliosis or kyphosis Lens dislocation (ectopia lentis) Hypermobile joints
60
Dx of Marfan syndrome?
Based clinically - FISH study will confirm
61
Txt of Marfan syndrome?
Beta blockers No vigorous exercise Aortic U/S (elective aortic root replacement PRN)
62
2nd most common trisomy?
Tri-18
63
Survivability of tri-18?
1st trimester - 95% abort <10% survive to 1yo 5% live past 1yr old
64
3rd most common trisomy?
Tri-13
65
Survivability of tri-13?
92% Fatal w/in 1st yr of life
66
Tri-13 common feature?
Congenital aplasia cutis - Punched out scalp lesion
67
Goiter present on delivery may indicate?
Inborn error of metabolism (Iodide/TSH) | Placental passage of antithyroid Rx given to mom.
68
TXT of congenital hypothyroidism
Levothyroxine (w/in 1st mo of life - IQ = NL)
69
Types of inborn errors of metabolism?
Phenyl-keton-uria Homo-cystin-uria Maple syrup urine disease Hereditary fructose intolerance
70
Phenylketonuria is autosomial Recessive or dominant?
Recessive
71
Phenylketonuria is due to?
Decreased Tyrosine | - Defect in hydroxylation of phenylalanine to form tyrosine
72
Phenylketonuria primarily affects what organ?
Brain
73
Phenylketonuria mental progression from birth?
NL infant - If un-TXT = severe MR - IQ=30
74
Phenylketonuria Dx is made by?
Newborn screen - PKU - quantitative amino acid
75
TXT of Phenylketonuria?
Must TXT w/in 1st 10d to protect intelligence - Phenylalanine diet restriction - Modified tetrahydrobiopterin
76
Complication of Phenylketonuria in utero?
Maternal PKU syndrome - Increased PKU in mom
77
Homocystinuria is autosomal recessive or dominant?
Recessive
78
Homocystinuria involves what organ?
Brain | Connective tissue/vascular system
79
Homocystinuria is?
Cystathionine Beta-synthase deficiency - increased Homocystieine - increased methionine
80
Homocystinuria features?
``` Dislocated lenses Long/slender extremities and arachnodactyly Malar flushing Livedo reticularis Scoliosis Pectus excavatum or carinatum Genu valgum Thrombosis MR or psych illness ```
81
TXT for Homocystinuria is?
1st - give pyridoxine and folic acid | 2nd - Methionine-restricted diet, betaine, cystine
82
Maple syrup urine disease is AKA?
Branched chain ketoaciduria
83
Maple syrup urine disease is an autosomal recessive or dominant condition?
Autosomal recessive
84
Maple syrup urine disease is common of what region/population?
Pennsylvania Mennonites
85
Maple syrup urine disease features?
``` Maple syrup urine odor Poor feeding Vomiting Tachypnea CNS depression ```
86
Maple syrup urine disease begins when?
W/in 1-4wks of birth
87
Hallmark of Maple syrup urine disease is?
Profound CNS depression - Alternating hypo/hyper-tonia (extensor spasm) - Opisthotonos - seizures
88
Dx of Maple syrup urine disease?
Labs - elevated - Leucine/isoleucine - Valine - Alloisoleucine
89
Txt of Maple syrup urine disease?
Leucine-restricted diet Dialysis - during acidotic crisis Liver transplant
90
Definitive TXT of Maple syrup urine disease?
Liver transplant
91
Complication of Maple syrup urine disease?
Kidney failure | Cerebral edema
92
Hereditary fructose intolerance is AKA?
Fructose-1-phosphate aldolase deficiency
93
F1P-aldolase deficiency causes what?
Increased F1P
94
Hereditary fructose intolerance presents as?
Emesis Hypoglycemia Severe liver/kidney disease
95
Hereditary fructose intolerance TXT?
Eliminate fructose and sucrose from diet

Phase 2 PEDs (23 decks)

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